Canonical Allele Identifier: CA413934790

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100658973A>C (hg19) ; chrX:g.101403985A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101403985A>C , CM000685.2:g.101403985A>C	GRCh38
NC_000023.10:g.100658973A>C , CM000685.1:g.100658973A>C	GRCh37
NC_000023.9:g.100545629A>C	NCBI36
NG_007119.1:g.8979T>G , LRG_672:g.8979T>G
NG_016327.1:g.783A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.195T>G (GLA)	ENSP00000501124.2:p.Ser65Arg
ENST00000674127.2:c.195T>G (GLA)	ENSP00000501044.2:p.Ser65Arg
ENST00000710365.1:c.270T>G (GLA)	ENSP00000518234.1:p.Ser90Arg
ENST00000218516.4:c.195T>G (GLA) MANE Select	ENSP00000218516.4:p.Ser65Arg
ENST00000466414.2:n.114T>G (GLA)
ENST00000468823.2:n.256T>G (GLA)
ENST00000479445.2:n.193T>G (GLA)
ENST00000480513.6:c.195T>G (GLA)	ENSP00000497055.1:p.Ser65Arg
ENST00000486121.6:c.125T>G (GLA)
ENST00000649178.1:c.318T>G (GLA)	ENSP00000498186.1:p.Ser106Arg
ENST00000674127.1:c.123T>G (GLA)	ENSP00000501044.1:p.Ser41Arg
ENST00000674142.1:n.282T>G (GLA)
ENST00000674634.2:c.195T>G (GLA)	ENSP00000502629.2:p.Ser65Arg
ENST00000675592.1:c.195T>G (GLA)	ENSP00000502239.1:p.Ser65Arg
ENST00000675799.1:c.195T>G (GLA)	ENSP00000502661.1:p.Ser65Arg
ENST00000675968.1:n.256T>G (GLA)
ENST00000676156.1:c.195T>G (GLA)	ENSP00000501730.1:p.Ser65Arg
ENST00000676372.1:c.195T>G (GLA)	ENSP00000502805.1:p.Ser65Arg
ENST00000218516.3:c.195T>G (GLA)	ENSP00000218516.3:p.Ser65Arg
ENST00000409170.3:c.301-7951A>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.301-7951A>C
ENST00000409338.5:c.178-7951A>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.178-7951A>C
ENST00000479445.1:n.179T>G (GLA)
ENST00000480513.5:n.125T>G (GLA)
ENST00000486121.5:n.125T>G (GLA)
ENST00000493905.6:c.195T>G (GLA)	ENSP00000476935.1:p.Ser65Arg
NM_000169.2:c.195T>G , LRG_672t1:c.195T>G (GLA)	NP_000160.1:p.Ser65Arg
NM_001199973.1:c.409-7951A>C (RPL36A-HNRNPH2)	NP_001186902.1:n.409-7951A>C
NM_001199974.1:c.286-7951A>C (RPL36A-HNRNPH2)	NP_001186903.1:n.286-7951A>C
XR_938397.1:n.223T>G (GLA)
XR_938397.2:n.244T>G (GLA)
NM_001199973.2:c.301-7951A>C (RPL36A-HNRNPH2)	NP_001186902.2:n.301-7951A>C
NM_001199974.2:c.178-7951A>C (RPL36A-HNRNPH2)	NP_001186903.2:n.178-7951A>C
NM_000169.3:c.195T>G (GLA) MANE Select	NP_000160.1:p.Ser65Arg
NR_164783.1:n.217T>G (GLA)