Canonical Allele Identifier: CA517736744

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653364A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398376A>C , CM000685.2:g.101398376A>C	GRCh38
NC_000023.10:g.100653364A>C , CM000685.1:g.100653364A>C	GRCh37
NC_000023.9:g.100540020A>C	NCBI36
NG_007119.1:g.14588T>G , LRG_672:g.14588T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*439T>G (GLA)	ENSP00000501124.2:n.*439T>G
ENST00000674127.2:c.*496T>G (GLA)	ENSP00000501044.2:n.*496T>G
ENST00000710365.1:c.1068T>G (GLA)	ENSP00000518234.1:p.Leu356=
ENST00000218516.4:c.993T>G (GLA) MANE Select	ENSP00000218516.4:p.Leu331=
ENST00000466414.2:n.1129T>G (GLA)
ENST00000468823.2:n.2145T>G (GLA)
ENST00000479445.2:n.1607T>G (GLA)
ENST00000480513.6:c.*301T>G (GLA)	ENSP00000497055.1:n.*301T>G
ENST00000486121.6:c.1038T>G (GLA)
ENST00000649178.1:c.1116T>G (GLA)	ENSP00000498186.1:p.Leu372=
ENST00000674127.1:c.1093T>G (GLA)	ENSP00000501044.1:n.1093T>G
ENST00000674142.1:n.1297T>G (GLA)
ENST00000674634.2:c.993T>G (GLA)	ENSP00000502629.2:p.Leu331=
ENST00000675592.1:c.802-277T>G (GLA)	ENSP00000502239.1:n.802-277T>G
ENST00000675799.1:c.*518T>G (GLA)	ENSP00000502661.1:n.*518T>G
ENST00000675968.1:n.3864T>G (GLA)
ENST00000676156.1:c.957T>G (GLA)	ENSP00000501730.1:p.Leu319=
ENST00000676372.1:c.1059T>G (GLA)	ENSP00000502805.1:n.1059T>G
ENST00000218516.3:c.993T>G (GLA)	ENSP00000218516.3:p.Leu331=
ENST00000409170.3:c.300+2919A>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2919A>C
ENST00000409338.5:c.177+6554A>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6554A>C
ENST00000466414.1:n.319T>G (GLA)
ENST00000493905.6:c.*381T>G (GLA)	ENSP00000476935.1:n.*381T>G
NM_000169.2:c.993T>G , LRG_672t1:c.993T>G (GLA)	NP_000160.1:p.Leu331=
NM_001199973.1:c.408+2919A>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2919A>C
NM_001199974.1:c.285+6554A>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6554A>C
XR_938397.1:n.1078T>G (GLA)
XR_938397.2:n.1099T>G (GLA)
NM_001199973.2:c.300+2919A>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2919A>C
NM_001199974.2:c.177+6554A>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6554A>C
NM_000169.3:c.993T>G (GLA) MANE Select	NP_000160.1:p.Leu331=
NR_164783.1:n.1072T>G (GLA)