Canonical Allele Identifier: CA413929587

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100656709T>G (hg19) ; chrX:g.101401721T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101401721T>G , CM000685.2:g.101401721T>G	GRCh38
NC_000023.10:g.100656709T>G , CM000685.1:g.100656709T>G	GRCh37
NC_000023.9:g.100543365T>G	NCBI36
NG_007119.1:g.11243A>C , LRG_672:g.11243A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.458A>C (GLA)	ENSP00000501124.2:p.Asp153Ala
ENST00000674127.2:c.458A>C (GLA)	ENSP00000501044.2:p.Asp153Ala
ENST00000710365.1:c.533A>C (GLA)	ENSP00000518234.1:p.Asp178Ala
ENST00000218516.4:c.458A>C (GLA) MANE Select	ENSP00000218516.4:p.Asp153Ala
ENST00000466414.2:n.377A>C (GLA)
ENST00000468823.2:n.519A>C (GLA)
ENST00000479445.2:n.456A>C (GLA)
ENST00000480513.6:c.458A>C (GLA)	ENSP00000497055.1:p.Asp153Ala
ENST00000486121.6:c.388A>C (GLA)
ENST00000649178.1:c.581A>C (GLA)	ENSP00000498186.1:p.Asp194Ala
ENST00000674127.1:c.386A>C (GLA)	ENSP00000501044.1:p.Asp129Ala
ENST00000674142.1:n.545A>C (GLA)
ENST00000674634.2:c.458A>C (GLA)	ENSP00000502629.2:p.Asp153Ala
ENST00000675592.1:c.458A>C (GLA)	ENSP00000502239.1:p.Asp153Ala
ENST00000675799.1:c.458A>C (GLA)	ENSP00000502661.1:p.Asp153Ala
ENST00000675968.1:n.519A>C (GLA)
ENST00000676156.1:c.458A>C (GLA)	ENSP00000501730.1:p.Asp153Ala
ENST00000676372.1:c.458A>C (GLA)	ENSP00000502805.1:p.Asp153Ala
ENST00000218516.3:c.458A>C (GLA)	ENSP00000218516.3:p.Asp153Ala
ENST00000409170.3:c.300+6264T>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+6264T>G
ENST00000409338.5:c.177+9899T>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+9899T>G
ENST00000479445.1:n.442A>C (GLA)
ENST00000480513.5:n.388A>C (GLA)
ENST00000486121.5:n.388A>C (GLA)
ENST00000493905.6:c.458A>C (GLA)	ENSP00000476935.1:p.Asp153Ala
NM_000169.2:c.458A>C , LRG_672t1:c.458A>C (GLA)	NP_000160.1:p.Asp153Ala
NM_001199973.1:c.408+6264T>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+6264T>G
NM_001199974.1:c.285+9899T>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+9899T>G
XR_938397.1:n.486A>C (GLA)
XR_938397.2:n.507A>C (GLA)
NM_001199973.2:c.300+6264T>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+6264T>G
NM_001199974.2:c.177+9899T>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+9899T>G
NM_000169.3:c.458A>C (GLA) MANE Select	NP_000160.1:p.Asp153Ala
NR_164783.1:n.480A>C (GLA)