Canonical Allele Identifier: CA413924819

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653886C>A (hg19) ; chrX:g.101398898C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398898C>A , CM000685.2:g.101398898C>A	GRCh38
NC_000023.10:g.100653886C>A , CM000685.1:g.100653886C>A	GRCh37
NC_000023.9:g.100540542C>A	NCBI36
NG_007119.1:g.14066G>T , LRG_672:g.14066G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*134G>T (GLA)	ENSP00000501124.2:n.*134G>T
ENST00000674127.2:c.*191G>T (GLA)	ENSP00000501044.2:n.*191G>T
ENST00000710365.1:c.763G>T (GLA)	ENSP00000518234.1:p.Ala255Ser
ENST00000218516.4:c.688G>T (GLA) MANE Select	ENSP00000218516.4:p.Ala230Ser
ENST00000466414.2:n.607G>T (GLA)
ENST00000468823.2:n.1623G>T (GLA)
ENST00000479445.2:n.1085G>T (GLA)
ENST00000480513.6:c.596G>T (GLA)	ENSP00000497055.1:p.Cys199Phe
ENST00000486121.6:c.733G>T (GLA)
ENST00000649178.1:c.811G>T (GLA)	ENSP00000498186.1:p.Ala271Ser
ENST00000674127.1:c.788G>T (GLA)	ENSP00000501044.1:n.788G>T
ENST00000674142.1:n.775G>T (GLA)
ENST00000674634.2:c.688G>T (GLA)	ENSP00000502629.2:p.Ala230Ser
ENST00000675592.1:c.688G>T (GLA)	ENSP00000502239.1:p.Ala230Ser
ENST00000675799.1:c.596G>T (GLA)	ENSP00000502661.1:p.Cys199Phe
ENST00000675968.1:n.3342G>T (GLA)
ENST00000676156.1:c.652G>T (GLA)	ENSP00000501730.1:p.Ala218Ser
ENST00000676372.1:c.688G>T (GLA)	ENSP00000502805.1:p.Ala230Ser
ENST00000218516.3:c.688G>T (GLA)	ENSP00000218516.3:p.Ala230Ser
ENST00000409170.3:c.300+3441C>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3441C>A
ENST00000409338.5:c.177+7076C>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7076C>A
ENST00000468823.1:n.237G>T (GLA)
ENST00000480513.5:n.526G>T (GLA)
ENST00000493905.6:c.*76G>T (GLA)	ENSP00000476935.1:n.*76G>T
NM_000169.2:c.688G>T , LRG_672t1:c.688G>T (GLA)	NP_000160.1:p.Ala230Ser
NM_001199973.1:c.408+3441C>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3441C>A
NM_001199974.1:c.285+7076C>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7076C>A
XR_938397.1:n.773G>T (GLA)
XR_938397.2:n.794G>T (GLA)
NM_001199973.2:c.300+3441C>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3441C>A
NM_001199974.2:c.177+7076C>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7076C>A
NM_000169.3:c.688G>T (GLA) MANE Select	NP_000160.1:p.Ala230Ser
NR_164783.1:n.767G>T (GLA)