Canonical Allele Identifier: CA413921185

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653053G>A (hg19) ; chrX:g.101398065G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398065G>A , CM000685.2:g.101398065G>A	GRCh38
NC_000023.10:g.100653053G>A , CM000685.1:g.100653053G>A	GRCh37
NC_000023.9:g.100539709G>A	NCBI36
NG_007119.1:g.14899C>T , LRG_672:g.14899C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*480C>T (GLA)	ENSP00000501124.2:n.*480C>T
ENST00000674127.2:c.*537C>T (GLA)	ENSP00000501044.2:n.*537C>T
ENST00000710365.1:c.1109C>T (GLA)	ENSP00000518234.1:p.Ser370Leu
ENST00000218516.4:c.1034C>T (GLA) MANE Select	ENSP00000218516.4:p.Ser345Leu
ENST00000466414.2:n.1170C>T (GLA)
ENST00000468823.2:n.2456C>T (GLA)
ENST00000479445.2:n.1648C>T (GLA)
ENST00000480513.6:c.*342C>T (GLA)	ENSP00000497055.1:n.*342C>T
ENST00000486121.6:c.1079C>T (GLA)
ENST00000649178.1:c.1157C>T (GLA)	ENSP00000498186.1:p.Ser386Leu
ENST00000674127.1:c.1134C>T (GLA)	ENSP00000501044.1:n.1134C>T
ENST00000674142.1:n.1338C>T (GLA)
ENST00000675592.1:c.836C>T (GLA)	ENSP00000502239.1:p.Ser279Leu
ENST00000675799.1:c.*559C>T (GLA)	ENSP00000502661.1:n.*559C>T
ENST00000675968.1:n.3905C>T (GLA)
ENST00000676156.1:c.998C>T (GLA)	ENSP00000501730.1:p.Ser333Leu
ENST00000676372.1:c.1100C>T (GLA)	ENSP00000502805.1:n.1100C>T
ENST00000218516.3:c.1034C>T (GLA)	ENSP00000218516.3:p.Ser345Leu
ENST00000409170.3:c.300+2608G>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2608G>A
ENST00000409338.5:c.177+6243G>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6243G>A
ENST00000466414.1:n.360C>T (GLA)
ENST00000493905.6:c.*422C>T (GLA)	ENSP00000476935.1:n.*422C>T
NM_000169.2:c.1034C>T , LRG_672t1:c.1034C>T (GLA)	NP_000160.1:p.Ser345Leu
NM_001199973.1:c.408+2608G>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2608G>A
NM_001199974.1:c.285+6243G>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6243G>A
XR_938397.1:n.1119C>T (GLA)
XR_938397.2:n.1140C>T (GLA)
NM_001199973.2:c.300+2608G>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2608G>A
NM_001199974.2:c.177+6243G>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6243G>A
NM_000169.3:c.1034C>T (GLA) MANE Select	NP_000160.1:p.Ser345Leu
NR_164783.1:n.1113C>T (GLA)