Canonical Allele Identifier: CA413921199

Gene: GLA RPL36A-HNRNPH2

Linked Data

• gnomAD v4: X-101398071-G-C
• MyVariant Identifiers: chrX:g.100653059G>C (hg19) ; chrX:g.101398071G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398071G>C , CM000685.2:g.101398071G>C	GRCh38
NC_000023.10:g.100653059G>C , CM000685.1:g.100653059G>C	GRCh37
NC_000023.9:g.100539715G>C	NCBI36
NG_007119.1:g.14893C>G , LRG_672:g.14893C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*474C>G (GLA)	ENSP00000501124.2:n.*474C>G
ENST00000674127.2:c.*531C>G (GLA)	ENSP00000501044.2:n.*531C>G
ENST00000710365.1:c.1103C>G (GLA)	ENSP00000518234.1:p.Pro368Arg
ENST00000218516.4:c.1028C>G (GLA) MANE Select	ENSP00000218516.4:p.Pro343Arg
ENST00000466414.2:n.1164C>G (GLA)
ENST00000468823.2:n.2450C>G (GLA)
ENST00000479445.2:n.1642C>G (GLA)
ENST00000480513.6:c.*336C>G (GLA)	ENSP00000497055.1:n.*336C>G
ENST00000486121.6:c.1073C>G (GLA)
ENST00000649178.1:c.1151C>G (GLA)	ENSP00000498186.1:p.Pro384Arg
ENST00000674127.1:c.1128C>G (GLA)	ENSP00000501044.1:n.1128C>G
ENST00000674142.1:n.1332C>G (GLA)
ENST00000675592.1:c.830C>G (GLA)	ENSP00000502239.1:p.Pro277Arg
ENST00000675799.1:c.*553C>G (GLA)	ENSP00000502661.1:n.*553C>G
ENST00000675968.1:n.3899C>G (GLA)
ENST00000676156.1:c.992C>G (GLA)	ENSP00000501730.1:p.Pro331Arg
ENST00000676372.1:c.1094C>G (GLA)	ENSP00000502805.1:n.1094C>G
ENST00000218516.3:c.1028C>G (GLA)	ENSP00000218516.3:p.Pro343Arg
ENST00000409170.3:c.300+2614G>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2614G>C
ENST00000409338.5:c.177+6249G>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6249G>C
ENST00000466414.1:n.354C>G (GLA)
ENST00000493905.6:c.*416C>G (GLA)	ENSP00000476935.1:n.*416C>G
NM_000169.2:c.1028C>G , LRG_672t1:c.1028C>G (GLA)	NP_000160.1:p.Pro343Arg
NM_001199973.1:c.408+2614G>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2614G>C
NM_001199974.1:c.285+6249G>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6249G>C
XR_938397.1:n.1113C>G (GLA)
XR_938397.2:n.1134C>G (GLA)
NM_001199973.2:c.300+2614G>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2614G>C
NM_001199974.2:c.177+6249G>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6249G>C
NM_000169.3:c.1028C>G (GLA) MANE Select	NP_000160.1:p.Pro343Arg
NR_164783.1:n.1107C>G (GLA)