Canonical Allele Identifier: CA352597

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs869312427
• MyVariant Identifiers: chrX:g.100653552C>G (hg19) ; chrX:g.101398564C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398564C>G , CM000685.2:g.101398564C>G	GRCh38
NC_000023.10:g.100653552C>G , CM000685.1:g.100653552C>G	GRCh37
NC_000023.9:g.100540208C>G	NCBI36
NG_007119.1:g.14400G>C , LRG_672:g.14400G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*251G>C (GLA)	ENSP00000501124.2:n.*251G>C
ENST00000674127.2:c.*308G>C (GLA)	ENSP00000501044.2:n.*308G>C
ENST00000710365.1:c.880G>C (GLA)	ENSP00000518234.1:p.Val294Leu
ENST00000218516.4:c.805G>C (GLA) MANE Select	ENSP00000218516.4:p.Val269Leu
ENST00000466414.2:n.941G>C (GLA)
ENST00000468823.2:n.1957G>C (GLA)
ENST00000479445.2:n.1419G>C (GLA)
ENST00000480513.6:c.*113G>C (GLA)	ENSP00000497055.1:n.*113G>C
ENST00000486121.6:c.850G>C (GLA)
ENST00000649178.1:c.928G>C (GLA)	ENSP00000498186.1:p.Val310Leu
ENST00000674127.1:c.905G>C (GLA)	ENSP00000501044.1:n.905G>C
ENST00000674142.1:n.1109G>C (GLA)
ENST00000674634.2:c.805G>C (GLA)	ENSP00000502629.2:p.Val269Leu
ENST00000675592.1:c.801+221G>C (GLA)	ENSP00000502239.1:n.801+221G>C
ENST00000675799.1:c.*330G>C (GLA)	ENSP00000502661.1:n.*330G>C
ENST00000675968.1:n.3676G>C (GLA)
ENST00000676156.1:c.769G>C (GLA)	ENSP00000501730.1:p.Val257Leu
ENST00000676372.1:c.871G>C (GLA)	ENSP00000502805.1:n.871G>C
ENST00000218516.3:c.805G>C (GLA)	ENSP00000218516.3:p.Val269Leu
ENST00000409170.3:c.300+3107C>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3107C>G
ENST00000409338.5:c.177+6742C>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6742C>G
ENST00000466414.1:n.131G>C (GLA)
ENST00000468823.1:n.571G>C (GLA)
ENST00000493905.6:c.*193G>C (GLA)	ENSP00000476935.1:n.*193G>C
NM_000169.2:c.805G>C , LRG_672t1:c.805G>C (GLA)	NP_000160.1:p.Val269Leu
NM_001199973.1:c.408+3107C>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3107C>G
NM_001199974.1:c.285+6742C>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6742C>G
XR_938397.1:n.890G>C (GLA)
XR_938397.2:n.911G>C (GLA)
NM_001199973.2:c.300+3107C>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3107C>G
NM_001199974.2:c.177+6742C>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6742C>G
NM_000169.3:c.805G>C (GLA) MANE Select	NP_000160.1:p.Val269Leu
NR_164783.1:n.884G>C (GLA)