Canonical Allele Identifier: CA517519594

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100652935G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397947G>A , CM000685.2:g.101397947G>A	GRCh38
NC_000023.10:g.100652935G>A , CM000685.1:g.100652935G>A	GRCh37
NC_000023.9:g.100539591G>A	NCBI36
NG_007119.1:g.15017C>T , LRG_672:g.15017C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*598C>T (GLA)	ENSP00000501124.2:n.*598C>T
ENST00000674127.2:c.*655C>T (GLA)	ENSP00000501044.2:n.*655C>T
ENST00000710365.1:c.1227C>T (GLA)	ENSP00000518234.1:p.Ile409=
ENST00000218516.4:c.1152C>T (GLA) MANE Select	ENSP00000218516.4:p.Ile384=
ENST00000466414.2:n.1288C>T (GLA)
ENST00000468823.2:n.2574C>T (GLA)
ENST00000479445.2:n.1766C>T (GLA)
ENST00000480513.6:c.*460C>T (GLA)	ENSP00000497055.1:n.*460C>T
ENST00000486121.6:c.1197C>T (GLA)
ENST00000649178.1:c.1275C>T (GLA)	ENSP00000498186.1:p.Ile425=
ENST00000674127.1:c.1252C>T (GLA)	ENSP00000501044.1:n.1252C>T
ENST00000674142.1:n.1421+35C>T (GLA)
ENST00000675592.1:c.954C>T (GLA)	ENSP00000502239.1:p.Ile318=
ENST00000675799.1:c.*677C>T (GLA)	ENSP00000502661.1:n.*677C>T
ENST00000675968.1:n.4023C>T (GLA)
ENST00000676156.1:c.1116C>T (GLA)	ENSP00000501730.1:p.Ile372=
ENST00000676372.1:c.1218C>T (GLA)	ENSP00000502805.1:n.1218C>T
ENST00000218516.3:c.1152C>T (GLA)	ENSP00000218516.3:p.Ile384=
ENST00000409170.3:c.300+2490G>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2490G>A
ENST00000409338.5:c.177+6125G>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6125G>A
ENST00000466414.1:n.478C>T (GLA)
ENST00000493905.6:c.*540C>T (GLA)	ENSP00000476935.1:n.*540C>T
NM_000169.2:c.1152C>T , LRG_672t1:c.1152C>T (GLA)	NP_000160.1:p.Ile384=
NM_001199973.1:c.408+2490G>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2490G>A
NM_001199974.1:c.285+6125G>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6125G>A
XR_938397.1:n.1237C>T (GLA)
XR_938397.2:n.1258C>T (GLA)
NM_001199973.2:c.300+2490G>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2490G>A
NM_001199974.2:c.177+6125G>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6125G>A
NM_000169.3:c.1152C>T (GLA) MANE Select	NP_000160.1:p.Ile384=
NR_164783.1:n.1231C>T (GLA)