Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39467466C>A , CM000666.2:g.39467466C>A	GRCh38
NC_000004.11:g.39469086C>A , CM000666.1:g.39469086C>A	GRCh37
NC_000004.10:g.39145481C>A	NCBI36
NG_032111.1:g.13422C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261434.8:c.300-52C>A	ENSP00000261434.4:n.300-52C>A
ENST00000340169.7:c.609-52C>A	ENSP00000340676.2:n.609-52C>A
ENST00000381846.2:c.608+2124C>A	ENSP00000371270.1:n.608+2124C>A
ENST00000513731.6:c.219-52C>A	ENSP00000425580.1:n.219-52C>A
ENST00000638422.1:c.609-52C>A	ENSP00000491001.1:n.609-52C>A
ENST00000638430.1:c.306-52C>A
ENST00000638451.1:c.300-2553C>A	ENSP00000491681.1:n.300-2553C>A
ENST00000638816.1:c.323-52C>A	ENSP00000492482.1:n.323-52C>A
ENST00000639422.1:c.394-52C>A	ENSP00000491899.1:n.394-52C>A
ENST00000640349.1:c.495-52C>A	ENSP00000491477.1:n.495-52C>A
ENST00000640381.1:n.669-52C>A
ENST00000640672.1:c.368+2124C>A	ENSP00000492203.1:n.368+2124C>A
ENST00000640689.1:c.*212-52C>A	ENSP00000491591.1:n.*212-52C>A
ENST00000640888.2:c.609-52C>A MANE Select	ENSP00000492260.1:n.609-52C>A
ENST00000261434.7:c.609-52C>A	ENSP00000261434.3:n.609-52C>A
ENST00000340169.6:c.609-52C>A	ENSP00000340676.2:n.609-52C>A
ENST00000381846.1:c.608+2124C>A	ENSP00000371270.1:n.608+2124C>A
ENST00000513731.5:c.219-52C>A	ENSP00000425580.1:n.219-52C>A
NM_001278590.1:c.608+2124C>A	NP_001265519.1:n.608+2124C>A
NM_006859.3:c.609-52C>A	NP_006850.2:n.609-52C>A
NM_194451.2:c.609-52C>A	NP_919433.1:n.609-52C>A
XM_006713990.2:c.300-2553C>A	XP_006714053.1:n.300-2553C>A
NM_001363700.1:c.300-52C>A	NP_001350629.1:n.300-52C>A
XM_006713990.3:c.300-2553C>A	XP_006714053.1:n.300-2553C>A
XM_017007665.2:c.608+2124C>A	XP_016863154.1:n.608+2124C>A
XR_001741096.2:n.697-52C>A
NM_001278590.2:c.608+2124C>A	NP_001265519.1:n.608+2124C>A
NM_001363700.2:c.300-52C>A	NP_001350629.1:n.300-52C>A
NM_006859.4:c.609-52C>A MANE Select	NP_006850.2:n.609-52C>A
NM_194451.3:c.609-52C>A	NP_919433.1:n.609-52C>A

Linked Data

Genomic Alleles

Transcript Alleles