Canonical Allele Identifier: CA352711

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397908A>G , CM000685.2:g.101397908A>G	GRCh38
NC_000023.10:g.100652896A>G , CM000685.1:g.100652896A>G	GRCh37
NC_000023.9:g.100539552A>G	NCBI36
NG_007119.1:g.15056T>C , LRG_672:g.15056T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674127.2:c.*694T>C (GLA)	ENSP00000501044.2:n.*694T>C
ENST00000710365.1:c.1266T>C (GLA)	ENSP00000518234.1:p.Tyr422=
ENST00000218516.4:c.1191T>C (GLA) MANE Select	ENSP00000218516.4:p.Tyr397=
ENST00000466414.2:n.1327T>C (GLA)
ENST00000468823.2:n.2613T>C (GLA)
ENST00000479445.2:n.1805T>C (GLA)
ENST00000649178.1:c.1314T>C (GLA)	ENSP00000498186.1:p.Tyr438=
ENST00000674127.1:c.1291T>C (GLA)	ENSP00000501044.1:n.1291T>C
ENST00000674142.1:n.1421+74T>C (GLA)
ENST00000675592.1:c.993T>C (GLA)	ENSP00000502239.1:p.Tyr331=
ENST00000675799.1:c.*716T>C (GLA)	ENSP00000502661.1:n.*716T>C
ENST00000675968.1:n.4062T>C (GLA)
ENST00000676156.1:c.1155T>C (GLA)	ENSP00000501730.1:p.Tyr385=
ENST00000676372.1:c.1257T>C (GLA)	ENSP00000502805.1:n.1257T>C
ENST00000218516.3:c.1191T>C (GLA)	ENSP00000218516.3:p.Tyr397=
ENST00000409170.3:c.300+2451A>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2451A>G
ENST00000409338.5:c.177+6086A>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6086A>G
ENST00000466414.1:n.517T>C (GLA)
ENST00000493905.6:c.*579T>C (GLA)	ENSP00000476935.1:n.*579T>C
NM_000169.2:c.1191T>C , LRG_672t1:c.1191T>C (GLA)	NP_000160.1:p.Tyr397=
NM_001199973.1:c.408+2451A>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2451A>G
NM_001199974.1:c.285+6086A>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6086A>G
XR_938397.1:n.1276T>C (GLA)
XR_938397.2:n.1297T>C (GLA)
NM_001199973.2:c.300+2451A>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2451A>G
NM_001199974.2:c.177+6086A>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6086A>G
NM_000169.3:c.1191T>C (GLA) MANE Select	NP_000160.1:p.Tyr397=
NR_164783.1:n.1270T>C (GLA)