Canonical Allele Identifier: CA413927813

Gene: GLA RPL36A-HNRNPH2

Linked Data

• gnomAD v4: X-101400738-C-A
• MyVariant Identifiers: chrX:g.100655726C>A (hg19) ; chrX:g.101400738C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400738C>A , CM000685.2:g.101400738C>A	GRCh38
NC_000023.10:g.100655726C>A , CM000685.1:g.100655726C>A	GRCh37
NC_000023.9:g.100542382C>A	NCBI36
NG_007119.1:g.12226G>T , LRG_672:g.12226G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*13G>T (GLA)	ENSP00000501124.2:n.*13G>T
ENST00000674127.2:c.*13G>T (GLA)	ENSP00000501044.2:n.*13G>T
ENST00000710365.1:c.642G>T (GLA)	ENSP00000518234.1:p.Leu214Phe
ENST00000218516.4:c.567G>T (GLA) MANE Select	ENSP00000218516.4:p.Leu189Phe
ENST00000466414.2:n.486G>T (GLA)
ENST00000468823.2:n.1502G>T (GLA)
ENST00000479445.2:n.964G>T (GLA)
ENST00000480513.6:c.547+894G>T (GLA)	ENSP00000497055.1:n.547+894G>T
ENST00000486121.6:c.612G>T (GLA)
ENST00000649178.1:c.690G>T (GLA)	ENSP00000498186.1:p.Leu230Phe
ENST00000674127.1:c.610G>T (GLA)	ENSP00000501044.1:n.610G>T
ENST00000674142.1:n.654G>T (GLA)
ENST00000674634.2:c.567G>T (GLA)	ENSP00000502629.2:p.Leu189Phe
ENST00000675592.1:c.567G>T (GLA)	ENSP00000502239.1:p.Leu189Phe
ENST00000675799.1:c.547+894G>T (GLA)	ENSP00000502661.1:n.547+894G>T
ENST00000675968.1:n.1502G>T (GLA)
ENST00000676156.1:c.531G>T (GLA)	ENSP00000501730.1:p.Leu177Phe
ENST00000676372.1:c.567G>T (GLA)	ENSP00000502805.1:p.Leu189Phe
ENST00000218516.3:c.567G>T (GLA)	ENSP00000218516.3:p.Leu189Phe
ENST00000409170.3:c.300+5281C>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5281C>A
ENST00000409338.5:c.177+8916C>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8916C>A
ENST00000468823.1:n.116G>T (GLA)
ENST00000480513.5:n.477+894G>T (GLA)
ENST00000486121.5:n.612G>T (GLA)
ENST00000493905.6:c.567G>T (GLA)	ENSP00000476935.1:p.Leu189Phe
NM_000169.2:c.567G>T , LRG_672t1:c.567G>T (GLA)	NP_000160.1:p.Leu189Phe
NM_001199973.1:c.408+5281C>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5281C>A
NM_001199974.1:c.285+8916C>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8916C>A
XR_938397.1:n.595G>T (GLA)
XR_938397.2:n.616G>T (GLA)
NM_001199973.2:c.300+5281C>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5281C>A
NM_001199974.2:c.177+8916C>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8916C>A
NM_000169.3:c.567G>T (GLA) MANE Select	NP_000160.1:p.Leu189Phe
NR_164783.1:n.589G>T (GLA)