Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312395C>T , CM000664.2:g.27312395C>T	GRCh38
NC_000002.11:g.27535263C>T , CM000664.1:g.27535263C>T	GRCh37
NC_000002.10:g.27388767C>T	NCBI36
NG_008075.1:g.15169G>A
NG_033055.1:g.868G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000380044.6:c.375+99G>A MANE Select	ENSP00000369383.1:n.375+99G>A
ENST00000233545.6:c.375+99G>A	ENSP00000233545.2:n.375+99G>A
ENST00000357186.10:c.207+99G>A	ENSP00000349713.6:n.207+99G>A
ENST00000380044.5:c.375+99G>A	ENSP00000369383.1:n.375+99G>A
ENST00000402310.5:c.375+99G>A	ENSP00000383955.1:n.375+99G>A
ENST00000402722.5:c.*40+99G>A	ENSP00000386000.1:n.*40+99G>A
ENST00000403262.6:c.375+99G>A	ENSP00000385671.1:n.375+99G>A
ENST00000405076.5:c.187-149G>A	ENSP00000385175.1:n.187-149G>A
ENST00000405983.5:c.420+99G>A	ENSP00000384586.1:n.420+99G>A
ENST00000415514.5:c.*176+99G>A	ENSP00000388043.1:n.*176+99G>A
ENST00000426513.6:c.*40+99G>A	ENSP00000403824.2:n.*40+99G>A
ENST00000428910.5:c.297+99G>A	ENSP00000405235.1:n.297+99G>A
ENST00000430991.5:c.210-149G>A
ENST00000475085.1:n.403+99G>A
ENST00000616446.1:n.451G>A
ENST00000616707.1:n.993G>A
ENST00000617583.4:n.500G>A
ENST00000620797.4:n.48+11G>A
ENST00000621183.4:n.530G>A
ENST00000621470.4:n.490G>A
ENST00000622003.4:n.647G>A
NM_002437.4:c.375+99G>A	NP_002428.1:n.375+99G>A
XM_005264326.2:c.375+99G>A	XP_005264383.1:n.375+99G>A
XM_005264327.2:c.216+99G>A	XP_005264384.1:n.216+99G>A
XM_006712021.2:c.327+99G>A	XP_006712084.1:n.327+99G>A
XM_005264326.4:c.375+99G>A	XP_005264383.1:n.375+99G>A
XM_006712021.3:c.327+99G>A	XP_006712084.1:n.327+99G>A
XM_017004150.1:c.357+99G>A	XP_016859639.1:n.357+99G>A
XM_017004151.1:c.327+99G>A	XP_016859640.1:n.327+99G>A
XM_017004152.1:c.216+99G>A	XP_016859641.1:n.216+99G>A
XM_024452913.1:c.327+99G>A	XP_024308681.1:n.327+99G>A
NM_002437.5:c.375+99G>A MANE Select	NP_002428.1:n.375+99G>A

Linked Data

Genomic Alleles

Transcript Alleles