Canonical Allele Identifier: CA413920252

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100652942C>A (hg19) ; chrX:g.101397954C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397954C>A , CM000685.2:g.101397954C>A	GRCh38
NC_000023.10:g.100652942C>A , CM000685.1:g.100652942C>A	GRCh37
NC_000023.9:g.100539598C>A	NCBI36
NG_007119.1:g.15010G>T , LRG_672:g.15010G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*591G>T (GLA)	ENSP00000501124.2:n.*591G>T
ENST00000674127.2:c.*648G>T (GLA)	ENSP00000501044.2:n.*648G>T
ENST00000710365.1:c.1220G>T (GLA)	ENSP00000518234.1:p.Cys407Phe
ENST00000218516.4:c.1145G>T (GLA) MANE Select	ENSP00000218516.4:p.Cys382Phe
ENST00000466414.2:n.1281G>T (GLA)
ENST00000468823.2:n.2567G>T (GLA)
ENST00000479445.2:n.1759G>T (GLA)
ENST00000480513.6:c.*453G>T (GLA)	ENSP00000497055.1:n.*453G>T
ENST00000486121.6:c.1190G>T (GLA)
ENST00000649178.1:c.1268G>T (GLA)	ENSP00000498186.1:p.Cys423Phe
ENST00000674127.1:c.1245G>T (GLA)	ENSP00000501044.1:n.1245G>T
ENST00000674142.1:n.1421+28G>T (GLA)
ENST00000675592.1:c.947G>T (GLA)	ENSP00000502239.1:p.Cys316Phe
ENST00000675799.1:c.*670G>T (GLA)	ENSP00000502661.1:n.*670G>T
ENST00000675968.1:n.4016G>T (GLA)
ENST00000676156.1:c.1109G>T (GLA)	ENSP00000501730.1:p.Cys370Phe
ENST00000676372.1:c.1211G>T (GLA)	ENSP00000502805.1:n.1211G>T
ENST00000218516.3:c.1145G>T (GLA)	ENSP00000218516.3:p.Cys382Phe
ENST00000409170.3:c.300+2497C>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2497C>A
ENST00000409338.5:c.177+6132C>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6132C>A
ENST00000466414.1:n.471G>T (GLA)
ENST00000493905.6:c.*533G>T (GLA)	ENSP00000476935.1:n.*533G>T
NM_000169.2:c.1145G>T , LRG_672t1:c.1145G>T (GLA)	NP_000160.1:p.Cys382Phe
NM_001199973.1:c.408+2497C>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2497C>A
NM_001199974.1:c.285+6132C>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6132C>A
XR_938397.1:n.1230G>T (GLA)
XR_938397.2:n.1251G>T (GLA)
NM_001199973.2:c.300+2497C>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2497C>A
NM_001199974.2:c.177+6132C>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6132C>A
NM_000169.3:c.1145G>T (GLA) MANE Select	NP_000160.1:p.Cys382Phe
NR_164783.1:n.1224G>T (GLA)