Canonical Allele Identifier: CA16621162

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 419957
• ClinVar RCV Id: RCV000484456 ; RCV002248700
• dbSNP Id: rs1064794205
• MyVariant Identifiers: chrX:g.100658842T>C (hg19) ; chrX:g.101403854T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101403854T>C , CM000685.2:g.101403854T>C	GRCh38
NC_000023.10:g.100658842T>C , CM000685.1:g.100658842T>C	GRCh37
NC_000023.9:g.100545498T>C	NCBI36
NG_007119.1:g.9110A>G , LRG_672:g.9110A>G
NG_016327.1:g.652T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.326A>G (GLA)	ENSP00000501124.2:p.Asp109Gly
ENST00000674127.2:c.326A>G (GLA)	ENSP00000501044.2:p.Asp109Gly
ENST00000710365.1:c.401A>G (GLA)	ENSP00000518234.1:p.Asp134Gly
ENST00000218516.4:c.326A>G (GLA) MANE Select	ENSP00000218516.4:p.Asp109Gly
ENST00000466414.2:n.245A>G (GLA)
ENST00000468823.2:n.387A>G (GLA)
ENST00000479445.2:n.324A>G (GLA)
ENST00000480513.6:c.326A>G (GLA)	ENSP00000497055.1:p.Asp109Gly
ENST00000486121.6:c.256A>G (GLA)
ENST00000649178.1:c.449A>G (GLA)	ENSP00000498186.1:p.Asp150Gly
ENST00000674127.1:c.254A>G (GLA)	ENSP00000501044.1:p.Asp85Gly
ENST00000674142.1:n.413A>G (GLA)
ENST00000674634.2:c.326A>G (GLA)	ENSP00000502629.2:p.Asp109Gly
ENST00000675592.1:c.326A>G (GLA)	ENSP00000502239.1:p.Asp109Gly
ENST00000675799.1:c.326A>G (GLA)	ENSP00000502661.1:p.Asp109Gly
ENST00000675968.1:n.387A>G (GLA)
ENST00000676156.1:c.326A>G (GLA)	ENSP00000501730.1:p.Asp109Gly
ENST00000676372.1:c.326A>G (GLA)	ENSP00000502805.1:p.Asp109Gly
ENST00000218516.3:c.326A>G (GLA)	ENSP00000218516.3:p.Asp109Gly
ENST00000409170.3:c.301-8082T>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.301-8082T>C
ENST00000409338.5:c.178-8082T>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.178-8082T>C
ENST00000479445.1:n.310A>G (GLA)
ENST00000480513.5:n.256A>G (GLA)
ENST00000486121.5:n.256A>G (GLA)
ENST00000493905.6:c.326A>G (GLA)	ENSP00000476935.1:p.Asp109Gly
NM_000169.2:c.326A>G , LRG_672t1:c.326A>G (GLA)	NP_000160.1:p.Asp109Gly
NM_001199973.1:c.409-8082T>C (RPL36A-HNRNPH2)	NP_001186902.1:n.409-8082T>C
NM_001199974.1:c.286-8082T>C (RPL36A-HNRNPH2)	NP_001186903.1:n.286-8082T>C
XR_938397.1:n.354A>G (GLA)
XR_938397.2:n.375A>G (GLA)
NM_001199973.2:c.301-8082T>C (RPL36A-HNRNPH2)	NP_001186902.2:n.301-8082T>C
NM_001199974.2:c.178-8082T>C (RPL36A-HNRNPH2)	NP_001186903.2:n.178-8082T>C
NM_000169.3:c.326A>G (GLA) MANE Select	NP_000160.1:p.Asp109Gly
NR_164783.1:n.348A>G (GLA)