Canonical Allele Identifier: CA413918829

Gene: GLA RPL36A-HNRNPH2

Linked Data

• gnomAD v4: X-101397837-A-C
• MyVariant Identifiers: chrX:g.100652825A>C (hg19) ; chrX:g.101397837A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397837A>C , CM000685.2:g.101397837A>C	GRCh38
NC_000023.10:g.100652825A>C , CM000685.1:g.100652825A>C	GRCh37
NC_000023.9:g.100539481A>C	NCBI36
NG_007119.1:g.15127T>G , LRG_672:g.15127T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674127.2:c.*765T>G (GLA)	ENSP00000501044.2:n.*765T>G
ENST00000710365.1:c.1337T>G (GLA)	ENSP00000518234.1:p.Met446Arg
ENST00000218516.4:c.1262T>G (GLA) MANE Select	ENSP00000218516.4:p.Met421Arg
ENST00000466414.2:n.1398T>G (GLA)
ENST00000468823.2:n.2684T>G (GLA)
ENST00000479445.2:n.1876T>G (GLA)
ENST00000649178.1:c.1385T>G (GLA)	ENSP00000498186.1:p.Met462Arg
ENST00000674127.1:c.1362T>G (GLA)	ENSP00000501044.1:n.1362T>G
ENST00000674142.1:n.1421+145T>G (GLA)
ENST00000675592.1:c.1064T>G (GLA)	ENSP00000502239.1:p.Met355Arg
ENST00000675968.1:n.4133T>G (GLA)
ENST00000676156.1:c.1226T>G (GLA)	ENSP00000501730.1:p.Met409Arg
ENST00000676372.1:c.1328T>G (GLA)	ENSP00000502805.1:n.1328T>G
ENST00000218516.3:c.1262T>G (GLA)	ENSP00000218516.3:p.Met421Arg
ENST00000409170.3:c.300+2380A>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2380A>C
ENST00000409338.5:c.177+6015A>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6015A>C
ENST00000466414.1:n.588T>G (GLA)
ENST00000493905.6:c.*650T>G (GLA)	ENSP00000476935.1:n.*650T>G
NM_000169.2:c.1262T>G , LRG_672t1:c.1262T>G (GLA)	NP_000160.1:p.Met421Arg
NM_001199973.1:c.408+2380A>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2380A>C
NM_001199974.1:c.285+6015A>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6015A>C
XR_938397.1:n.1347T>G (GLA)
XR_938397.2:n.1368T>G (GLA)
NM_001199973.2:c.300+2380A>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2380A>C
NM_001199974.2:c.177+6015A>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6015A>C
NM_000169.3:c.1262T>G (GLA) MANE Select	NP_000160.1:p.Met421Arg
NR_164783.1:n.1341T>G (GLA)