Canonical Allele Identifier: CA352647

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs869312441
• MyVariant Identifiers: chrX:g.100653479G>C (hg19) ; chrX:g.101398491G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398491G>C , CM000685.2:g.101398491G>C	GRCh38
NC_000023.10:g.100653479G>C , CM000685.1:g.100653479G>C	GRCh37
NC_000023.9:g.100540135G>C	NCBI36
NG_007119.1:g.14473C>G , LRG_672:g.14473C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*324C>G (GLA)	ENSP00000501124.2:n.*324C>G
ENST00000674127.2:c.*381C>G (GLA)	ENSP00000501044.2:n.*381C>G
ENST00000710365.1:c.953C>G (GLA)	ENSP00000518234.1:p.Pro318Arg
ENST00000218516.4:c.878C>G (GLA) MANE Select	ENSP00000218516.4:p.Pro293Arg
ENST00000466414.2:n.1014C>G (GLA)
ENST00000468823.2:n.2030C>G (GLA)
ENST00000479445.2:n.1492C>G (GLA)
ENST00000480513.6:c.*186C>G (GLA)	ENSP00000497055.1:n.*186C>G
ENST00000486121.6:c.923C>G (GLA)
ENST00000649178.1:c.1001C>G (GLA)	ENSP00000498186.1:p.Pro334Arg
ENST00000674127.1:c.978C>G (GLA)	ENSP00000501044.1:n.978C>G
ENST00000674142.1:n.1182C>G (GLA)
ENST00000674634.2:c.878C>G (GLA)	ENSP00000502629.2:p.Pro293Arg
ENST00000675592.1:c.801+294C>G (GLA)	ENSP00000502239.1:n.801+294C>G
ENST00000675799.1:c.*403C>G (GLA)	ENSP00000502661.1:n.*403C>G
ENST00000675968.1:n.3749C>G (GLA)
ENST00000676156.1:c.842C>G (GLA)	ENSP00000501730.1:p.Pro281Arg
ENST00000676372.1:c.944C>G (GLA)	ENSP00000502805.1:n.944C>G
ENST00000218516.3:c.878C>G (GLA)	ENSP00000218516.3:p.Pro293Arg
ENST00000409170.3:c.300+3034G>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3034G>C
ENST00000409338.5:c.177+6669G>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6669G>C
ENST00000466414.1:n.204C>G (GLA)
ENST00000493905.6:c.*266C>G (GLA)	ENSP00000476935.1:n.*266C>G
NM_000169.2:c.878C>G , LRG_672t1:c.878C>G (GLA)	NP_000160.1:p.Pro293Arg
NM_001199973.1:c.408+3034G>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3034G>C
NM_001199974.1:c.285+6669G>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6669G>C
XR_938397.1:n.963C>G (GLA)
XR_938397.2:n.984C>G (GLA)
NM_001199973.2:c.300+3034G>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3034G>C
NM_001199974.2:c.177+6669G>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6669G>C
NM_000169.3:c.878C>G (GLA) MANE Select	NP_000160.1:p.Pro293Arg
NR_164783.1:n.957C>G (GLA)