Canonical Allele Identifier: CA413923423

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 1507609
• ClinVar RCV Id: RCV002013540 ; RCV002423245
• dbSNP Id: rs869312429
• MyVariant Identifiers: chrX:g.100653545C>A (hg19) ; chrX:g.101398557C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398557C>A , CM000685.2:g.101398557C>A	GRCh38
NC_000023.10:g.100653545C>A , CM000685.1:g.100653545C>A	GRCh37
NC_000023.9:g.100540201C>A	NCBI36
NG_007119.1:g.14407G>T , LRG_672:g.14407G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*258G>T (GLA)	ENSP00000501124.2:n.*258G>T
ENST00000674127.2:c.*315G>T (GLA)	ENSP00000501044.2:n.*315G>T
ENST00000710365.1:c.887G>T (GLA)	ENSP00000518234.1:p.Gly296Val
ENST00000218516.4:c.812G>T (GLA) MANE Select	ENSP00000218516.4:p.Gly271Val
ENST00000466414.2:n.948G>T (GLA)
ENST00000468823.2:n.1964G>T (GLA)
ENST00000479445.2:n.1426G>T (GLA)
ENST00000480513.6:c.*120G>T (GLA)	ENSP00000497055.1:n.*120G>T
ENST00000486121.6:c.857G>T (GLA)
ENST00000649178.1:c.935G>T (GLA)	ENSP00000498186.1:p.Gly312Val
ENST00000674127.1:c.912G>T (GLA)	ENSP00000501044.1:n.912G>T
ENST00000674142.1:n.1116G>T (GLA)
ENST00000674634.2:c.812G>T (GLA)	ENSP00000502629.2:p.Gly271Val
ENST00000675592.1:c.801+228G>T (GLA)	ENSP00000502239.1:n.801+228G>T
ENST00000675799.1:c.*337G>T (GLA)	ENSP00000502661.1:n.*337G>T
ENST00000675968.1:n.3683G>T (GLA)
ENST00000676156.1:c.776G>T (GLA)	ENSP00000501730.1:p.Gly259Val
ENST00000676372.1:c.878G>T (GLA)	ENSP00000502805.1:n.878G>T
ENST00000218516.3:c.812G>T (GLA)	ENSP00000218516.3:p.Gly271Val
ENST00000409170.3:c.300+3100C>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3100C>A
ENST00000409338.5:c.177+6735C>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6735C>A
ENST00000466414.1:n.138G>T (GLA)
ENST00000468823.1:n.578G>T (GLA)
ENST00000493905.6:c.*200G>T (GLA)	ENSP00000476935.1:n.*200G>T
NM_000169.2:c.812G>T , LRG_672t1:c.812G>T (GLA)	NP_000160.1:p.Gly271Val
NM_001199973.1:c.408+3100C>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3100C>A
NM_001199974.1:c.285+6735C>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6735C>A
XR_938397.1:n.897G>T (GLA)
XR_938397.2:n.918G>T (GLA)
NM_001199973.2:c.300+3100C>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3100C>A
NM_001199974.2:c.177+6735C>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6735C>A
NM_000169.3:c.812G>T (GLA) MANE Select	NP_000160.1:p.Gly271Val
NR_164783.1:n.891G>T (GLA)