Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398453G= , CM000685.2:g.101398453G=	GRCh38
NC_000023.10:g.100653441G= , CM000685.1:g.100653441G=	GRCh37
NC_000023.9:g.100540097G=	NCBI36
NG_007119.1:g.14511C= , LRG_672:g.14511C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*362C= (GLA)	ENSP00000501124.2:n.*362C=
ENST00000674127.2:c.*419C= (GLA)	ENSP00000501044.2:n.*419C=
ENST00000710365.1:c.991C= (GLA)	ENSP00000518234.1:p.Gln331=
ENST00000218516.4:c.916C= (GLA) MANE Select	ENSP00000218516.4:p.Gln306=
ENST00000466414.2:n.1052C= (GLA)
ENST00000468823.2:n.2068C= (GLA)
ENST00000479445.2:n.1530C= (GLA)
ENST00000480513.6:c.*224C= (GLA)	ENSP00000497055.1:n.*224C=
ENST00000486121.6:c.961C= (GLA)
ENST00000649178.1:c.1039C= (GLA)	ENSP00000498186.1:p.Gln347=
ENST00000674127.1:c.1016C= (GLA)	ENSP00000501044.1:n.1016C=
ENST00000674142.1:n.1220C= (GLA)
ENST00000674634.2:c.916C= (GLA)	ENSP00000502629.2:p.Gln306=
ENST00000675592.1:c.801+332C= (GLA)	ENSP00000502239.1:n.801+332C=
ENST00000675799.1:c.*441C= (GLA)	ENSP00000502661.1:n.*441C=
ENST00000675968.1:n.3787C= (GLA)
ENST00000676156.1:c.880C= (GLA)	ENSP00000501730.1:p.Gln294=
ENST00000676372.1:c.982C= (GLA)	ENSP00000502805.1:n.982C=
ENST00000218516.3:c.916C= (GLA)	ENSP00000218516.3:p.Gln306=
ENST00000409170.3:c.300+2996G= (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2996G=
ENST00000409338.5:c.177+6631G= (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6631G=
ENST00000466414.1:n.242C= (GLA)
ENST00000493905.6:c.*304C= (GLA)	ENSP00000476935.1:n.*304C=
NM_000169.2:c.916C= , LRG_672t1:c.916C= (GLA)	NP_000160.1:p.Gln306=
NM_001199973.1:c.408+2996G= (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2996G=
NM_001199974.1:c.285+6631G= (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6631G=
XR_938397.1:n.1001C= (GLA)
XR_938397.2:n.1022C= (GLA)
NM_001199973.2:c.300+2996G= (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2996G=
NM_001199974.2:c.177+6631G= (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6631G=
NM_000169.3:c.916C= (GLA) MANE Select	NP_000160.1:p.Gln306=
NR_164783.1:n.995C= (GLA)