Canonical Allele Identifier: CA021691

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 163547
• ClinVar RCV Id: RCV000150749 ; RCV000203179 ; RCV000621570 ; RCV000782202 ; RCV003149916
• dbSNP Id: rs149391489
• ExAC: X:100656791 T / C
• gnomAD v2: X-100656791-T-C
• gnomAD v3: X-101401803-T-C
• gnomAD v4: X-101401803-T-C
• MyVariant Identifiers: chrX:g.100656791T>C (hg19) ; chrX:g.101401803T>C (hg38)
• PubMed: PMID:11889412 ; PMID:20360539 ; PMID:23219219 ; PMID:23935525 ; PMID:24503780 ; PMID:24582695 ; PMID:25382311 ; PMID:26866599 ; PMID:26990548 ; PMID:27195818 ; PMID:27356758 ; PMID:27657681

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101401803T>C , CM000685.2:g.101401803T>C	GRCh38
NC_000023.10:g.100656791T>C , CM000685.1:g.100656791T>C	GRCh37
NC_000023.9:g.100543447T>C	NCBI36
NG_007119.1:g.11161A>G , LRG_672:g.11161A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.376A>G (GLA)	ENSP00000501124.2:p.Ser126Gly
ENST00000674127.2:c.376A>G (GLA)	ENSP00000501044.2:p.Ser126Gly
ENST00000710365.1:c.451A>G (GLA)	ENSP00000518234.1:p.Ser151Gly
ENST00000218516.4:c.376A>G (GLA) MANE Select	ENSP00000218516.4:p.Ser126Gly
ENST00000466414.2:n.295A>G (GLA)
ENST00000468823.2:n.437A>G (GLA)
ENST00000479445.2:n.374A>G (GLA)
ENST00000480513.6:c.376A>G (GLA)	ENSP00000497055.1:p.Ser126Gly
ENST00000486121.6:c.306A>G (GLA)
ENST00000649178.1:c.499A>G (GLA)	ENSP00000498186.1:p.Ser167Gly
ENST00000674127.1:c.304A>G (GLA)	ENSP00000501044.1:p.Ser102Gly
ENST00000674142.1:n.463A>G (GLA)
ENST00000674634.2:c.376A>G (GLA)	ENSP00000502629.2:p.Ser126Gly
ENST00000675592.1:c.376A>G (GLA)	ENSP00000502239.1:p.Ser126Gly
ENST00000675799.1:c.376A>G (GLA)	ENSP00000502661.1:p.Ser126Gly
ENST00000675968.1:n.437A>G (GLA)
ENST00000676156.1:c.376A>G (GLA)	ENSP00000501730.1:p.Ser126Gly
ENST00000676372.1:c.376A>G (GLA)	ENSP00000502805.1:p.Ser126Gly
ENST00000218516.3:c.376A>G (GLA)	ENSP00000218516.3:p.Ser126Gly
ENST00000409170.3:c.300+6346T>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+6346T>C
ENST00000409338.5:c.177+9981T>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+9981T>C
ENST00000479445.1:n.360A>G (GLA)
ENST00000480513.5:n.306A>G (GLA)
ENST00000486121.5:n.306A>G (GLA)
ENST00000493905.6:c.376A>G (GLA)	ENSP00000476935.1:p.Ser126Gly
NM_000169.2:c.376A>G , LRG_672t1:c.376A>G (GLA)	NP_000160.1:p.Ser126Gly
NM_001199973.1:c.408+6346T>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+6346T>C
NM_001199974.1:c.285+9981T>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+9981T>C
XR_938397.1:n.404A>G (GLA)
XR_938397.2:n.425A>G (GLA)
NM_001199973.2:c.300+6346T>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+6346T>C
NM_001199974.2:c.177+9981T>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+9981T>C
NM_000169.3:c.376A>G (GLA) MANE Select	NP_000160.1:p.Ser126Gly
NR_164783.1:n.398A>G (GLA)