Canonical Allele Identifier: CA413919767

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100652907G>C (hg19) ; chrX:g.101397919G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397919G>C , CM000685.2:g.101397919G>C	GRCh38
NC_000023.10:g.100652907G>C , CM000685.1:g.100652907G>C	GRCh37
NC_000023.9:g.100539563G>C	NCBI36
NG_007119.1:g.15045C>G , LRG_672:g.15045C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674127.2:c.*683C>G (GLA)	ENSP00000501044.2:n.*683C>G
ENST00000710365.1:c.1255C>G (GLA)	ENSP00000518234.1:p.Leu419Val
ENST00000218516.4:c.1180C>G (GLA) MANE Select	ENSP00000218516.4:p.Leu394Val
ENST00000466414.2:n.1316C>G (GLA)
ENST00000468823.2:n.2602C>G (GLA)
ENST00000479445.2:n.1794C>G (GLA)
ENST00000649178.1:c.1303C>G (GLA)	ENSP00000498186.1:p.Leu435Val
ENST00000674127.1:c.1280C>G (GLA)	ENSP00000501044.1:n.1280C>G
ENST00000674142.1:n.1421+63C>G (GLA)
ENST00000675592.1:c.982C>G (GLA)	ENSP00000502239.1:p.Leu328Val
ENST00000675799.1:c.*705C>G (GLA)	ENSP00000502661.1:n.*705C>G
ENST00000675968.1:n.4051C>G (GLA)
ENST00000676156.1:c.1144C>G (GLA)	ENSP00000501730.1:p.Leu382Val
ENST00000676372.1:c.1246C>G (GLA)	ENSP00000502805.1:n.1246C>G
ENST00000218516.3:c.1180C>G (GLA)	ENSP00000218516.3:p.Leu394Val
ENST00000409170.3:c.300+2462G>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2462G>C
ENST00000409338.5:c.177+6097G>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6097G>C
ENST00000466414.1:n.506C>G (GLA)
ENST00000493905.6:c.*568C>G (GLA)	ENSP00000476935.1:n.*568C>G
NM_000169.2:c.1180C>G , LRG_672t1:c.1180C>G (GLA)	NP_000160.1:p.Leu394Val
NM_001199973.1:c.408+2462G>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2462G>C
NM_001199974.1:c.285+6097G>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6097G>C
XR_938397.1:n.1265C>G (GLA)
XR_938397.2:n.1286C>G (GLA)
NM_001199973.2:c.300+2462G>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2462G>C
NM_001199974.2:c.177+6097G>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6097G>C
NM_000169.3:c.1180C>G (GLA) MANE Select	NP_000160.1:p.Leu394Val
NR_164783.1:n.1259C>G (GLA)