Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400978G>T , CM000685.2:g.101400978G>T	GRCh38
NC_000023.10:g.100655966G>T , CM000685.1:g.100655966G>T	GRCh37
NC_000023.9:g.100542622G>T	NCBI36
NG_007119.1:g.11986C>A , LRG_672:g.11986C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.663-221C>A (GLA)	ENSP00000501124.2:n.663-221C>A
ENST00000674127.2:c.663-221C>A (GLA)	ENSP00000501044.2:n.663-221C>A
ENST00000710365.1:c.623-221C>A (GLA)	ENSP00000518234.1:n.623-221C>A
ENST00000218516.4:c.548-221C>A (GLA) MANE Select	ENSP00000218516.4:n.548-221C>A
ENST00000466414.2:n.467-221C>A (GLA)
ENST00000468823.2:n.1262C>A (GLA)
ENST00000479445.2:n.945-221C>A (GLA)
ENST00000480513.6:c.547+654C>A (GLA)	ENSP00000497055.1:n.547+654C>A
ENST00000486121.6:c.593-221C>A (GLA)
ENST00000649178.1:c.671-221C>A (GLA)	ENSP00000498186.1:n.671-221C>A
ENST00000674127.1:c.591-221C>A (GLA)	ENSP00000501044.1:n.591-221C>A
ENST00000674142.1:n.635-221C>A (GLA)
ENST00000674634.2:c.548-221C>A (GLA)	ENSP00000502629.2:n.548-221C>A
ENST00000675592.1:c.548-221C>A (GLA)	ENSP00000502239.1:n.548-221C>A
ENST00000675799.1:c.547+654C>A (GLA)	ENSP00000502661.1:n.547+654C>A
ENST00000675968.1:n.1262C>A (GLA)
ENST00000676156.1:c.512-221C>A (GLA)	ENSP00000501730.1:n.512-221C>A
ENST00000676372.1:c.548-221C>A (GLA)	ENSP00000502805.1:n.548-221C>A
ENST00000218516.3:c.548-221C>A (GLA)	ENSP00000218516.3:n.548-221C>A
ENST00000409170.3:c.300+5521G>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5521G>T
ENST00000409338.5:c.177+9156G>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+9156G>T
ENST00000480513.5:n.477+654C>A (GLA)
ENST00000486121.5:n.593-221C>A (GLA)
ENST00000493905.6:c.548-221C>A (GLA)	ENSP00000476935.1:n.548-221C>A
NM_000169.2:c.548-221C>A , LRG_672t1:c.548-221C>A (GLA)	NP_000160.1:n.548-221C>A
NM_001199973.1:c.408+5521G>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5521G>T
NM_001199974.1:c.285+9156G>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+9156G>T
XR_938397.1:n.576-221C>A (GLA)
XR_938397.2:n.597-221C>A (GLA)
NM_001199973.2:c.300+5521G>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5521G>T
NM_001199974.2:c.177+9156G>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+9156G>T
NM_000169.3:c.548-221C>A (GLA) MANE Select	NP_000160.1:n.548-221C>A
NR_164783.1:n.570-221C>A (GLA)