Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75745788G>A , CM000663.2:g.75745788G>A	GRCh38
NC_000001.10:g.76211473G>A , CM000663.1:g.76211473G>A	GRCh37
NC_000001.9:g.75984061G>A	NCBI36
NG_007045.2:g.26431G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.600-18G>A MANE Select	ENSP00000359878.5:n.600-18G>A
ENST00000473018.3:n.2724-18G>A
ENST00000532207.6:n.1471G>A
ENST00000541113.6:c.600-18G>A	ENSP00000442324.2:n.600-18G>A
ENST00000679509.1:n.1562-18G>A
ENST00000679530.1:c.*368-18G>A	ENSP00000506454.1:n.*368-18G>A
ENST00000679615.1:n.2724-3631G>A
ENST00000679687.1:c.162-18G>A	ENSP00000506598.1:n.162-18G>A
ENST00000679704.1:c.*366-18G>A	ENSP00000505117.1:n.*366-18G>A
ENST00000679709.1:c.*563-18G>A	ENSP00000506623.1:n.*563-18G>A
ENST00000679976.1:c.*184-18G>A	ENSP00000505565.1:n.*184-18G>A
ENST00000680166.1:n.3889-18G>A
ENST00000680517.1:c.*97-3631G>A	ENSP00000505803.1:n.*97-3631G>A
ENST00000680582.1:n.1562-18G>A
ENST00000680613.1:c.600-47G>A	ENSP00000506114.1:n.600-47G>A
ENST00000680662.1:c.*514-18G>A	ENSP00000505080.1:n.*514-18G>A
ENST00000680691.1:c.*263-18G>A	ENSP00000506487.1:n.*263-18G>A
ENST00000680694.1:c.*188-18G>A	ENSP00000505658.1:n.*188-18G>A
ENST00000680743.1:c.*267-18G>A	ENSP00000505073.1:n.*267-18G>A
ENST00000680749.1:c.600-3631G>A	ENSP00000505122.1:n.600-3631G>A
ENST00000680798.1:c.*184-3631G>A	ENSP00000505670.1:n.*184-3631G>A
ENST00000680805.1:c.600-18G>A	ENSP00000505447.1:n.600-18G>A
ENST00000680844.1:c.*384-18G>A	ENSP00000506541.1:n.*384-18G>A
ENST00000680948.1:c.*467-18G>A	ENSP00000505441.1:n.*467-18G>A
ENST00000680964.1:c.600-18G>A	ENSP00000505961.1:n.600-18G>A
ENST00000681037.1:c.*2113-47G>A	ENSP00000506025.1:n.*2113-47G>A
ENST00000681063.1:c.600-4663G>A	ENSP00000506616.1:n.600-4663G>A
ENST00000681209.1:c.*364-3631G>A	ENSP00000505877.1:n.*364-3631G>A
ENST00000681278.1:n.957-18G>A
ENST00000681289.1:n.4577G>A
ENST00000681361.1:c.*267-18G>A	ENSP00000506679.1:n.*267-18G>A
ENST00000681430.1:c.600-18G>A	ENSP00000506301.1:n.600-18G>A
ENST00000681446.1:c.*182-18G>A	ENSP00000506244.1:n.*182-18G>A
ENST00000681450.1:c.*271-18G>A	ENSP00000505660.1:n.*271-18G>A
ENST00000681548.1:c.*186-18G>A	ENSP00000505275.1:n.*186-18G>A
ENST00000681616.1:c.*368-3631G>A	ENSP00000505111.1:n.*368-3631G>A
ENST00000681621.1:c.*184-18G>A	ENSP00000505770.1:n.*184-18G>A
ENST00000681680.1:n.2724-47G>A
ENST00000681720.1:c.*55-18G>A	ENSP00000505438.1:n.*55-18G>A
ENST00000681730.1:n.822-18G>A
ENST00000681790.1:c.342-18G>A	ENSP00000505130.1:n.342-18G>A
ENST00000681837.1:n.1216-18G>A
ENST00000681913.1:n.2724-18G>A
ENST00000681916.1:c.*368-18G>A	ENSP00000506477.1:n.*368-18G>A
ENST00000681930.1:n.2724-18G>A
ENST00000370834.9:c.699-18G>A	ENSP00000359871.5:n.699-18G>A
ENST00000370841.8:c.600-18G>A	ENSP00000359878.4:n.600-18G>A
ENST00000420607.6:c.612-18G>A	ENSP00000409612.2:n.612-18G>A
ENST00000525808.5:c.*186-18G>A	ENSP00000434823.1:n.*186-18G>A
ENST00000526129.5:c.*384-18G>A	ENSP00000434092.1:n.*384-18G>A
ENST00000526196.5:c.*368-18G>A	ENSP00000431953.1:n.*368-18G>A
ENST00000526930.1:n.373-18G>A
ENST00000529059.5:n.509-18G>A
ENST00000530953.6:c.*97-18G>A	ENSP00000431372.1:n.*97-18G>A
ENST00000532207.5:n.312G>A
ENST00000532509.5:c.*364-18G>A	ENSP00000432522.1:n.*364-18G>A
ENST00000534334.5:c.*184-18G>A	ENSP00000435584.1:n.*184-18G>A
ENST00000541113.5:c.492-18G>A	ENSP00000442324.1:n.492-18G>A
NM_000016.5:c.600-18G>A	NP_000007.1:n.600-18G>A
NM_001127328.2:c.612-18G>A	NP_001120800.1:n.612-18G>A
NM_001286042.1:c.492-18G>A	NP_001272971.1:n.492-18G>A
NM_001286043.1:c.699-18G>A	NP_001272972.1:n.699-18G>A
NM_001286044.1:c.33-18G>A	NP_001272973.1:n.33-18G>A
NM_000016.6:c.600-18G>A MANE Select	NP_000007.1:n.600-18G>A
NM_001127328.3:c.612-18G>A	NP_001120800.1:n.612-18G>A
NM_001286042.2:c.492-18G>A	NP_001272971.1:n.492-18G>A
NM_001286043.2:c.699-18G>A	NP_001272972.1:n.699-18G>A
NM_001286044.2:c.33-18G>A	NP_001272973.1:n.33-18G>A

Linked Data

Genomic Alleles

Transcript Alleles