Canonical Allele Identifier: CA021931

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 92561
• ClinVar RCV Id: RCV000078290 ; RCV000822976
• dbSNP Id: rs398123217
• gnomAD v4: X-101398939-T-C
• MyVariant Identifiers: chrX:g.100653927T>C (hg19) ; chrX:g.101398939T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398939T>C , CM000685.2:g.101398939T>C	GRCh38
NC_000023.10:g.100653927T>C , CM000685.1:g.100653927T>C	GRCh37
NC_000023.9:g.100540583T>C	NCBI36
NG_007119.1:g.14025A>G , LRG_672:g.14025A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*93A>G (GLA)	ENSP00000501124.2:n.*93A>G
ENST00000674127.2:c.*150A>G (GLA)	ENSP00000501044.2:n.*150A>G
ENST00000710365.1:c.722A>G (GLA)	ENSP00000518234.1:p.Tyr241Cys
ENST00000218516.4:c.647A>G (GLA) MANE Select	ENSP00000218516.4:p.Tyr216Cys
ENST00000466414.2:n.566A>G (GLA)
ENST00000468823.2:n.1582A>G (GLA)
ENST00000479445.2:n.1044A>G (GLA)
ENST00000480513.6:c.555A>G (GLA)	ENSP00000497055.1:p.Leu185=
ENST00000486121.6:c.692A>G (GLA)
ENST00000649178.1:c.770A>G (GLA)	ENSP00000498186.1:p.Tyr257Cys
ENST00000674127.1:c.747A>G (GLA)	ENSP00000501044.1:n.747A>G
ENST00000674142.1:n.734A>G (GLA)
ENST00000674634.2:c.647A>G (GLA)	ENSP00000502629.2:p.Tyr216Cys
ENST00000675592.1:c.647A>G (GLA)	ENSP00000502239.1:p.Tyr216Cys
ENST00000675799.1:c.555A>G (GLA)	ENSP00000502661.1:p.Leu185=
ENST00000675968.1:n.3301A>G (GLA)
ENST00000676156.1:c.611A>G (GLA)	ENSP00000501730.1:p.Tyr204Cys
ENST00000676372.1:c.647A>G (GLA)	ENSP00000502805.1:p.Tyr216Cys
ENST00000218516.3:c.647A>G (GLA)	ENSP00000218516.3:p.Tyr216Cys
ENST00000409170.3:c.300+3482T>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3482T>C
ENST00000409338.5:c.177+7117T>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7117T>C
ENST00000468823.1:n.196A>G (GLA)
ENST00000480513.5:n.485A>G (GLA)
ENST00000486121.5:n.692A>G (GLA)
ENST00000493905.6:c.*35A>G (GLA)	ENSP00000476935.1:n.*35A>G
NM_000169.2:c.647A>G , LRG_672t1:c.647A>G (GLA)	NP_000160.1:p.Tyr216Cys
NM_001199973.1:c.408+3482T>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3482T>C
NM_001199974.1:c.285+7117T>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7117T>C
XR_938397.1:n.732A>G (GLA)
XR_938397.2:n.753A>G (GLA)
NM_001199973.2:c.300+3482T>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3482T>C
NM_001199974.2:c.177+7117T>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7117T>C
NM_000169.3:c.647A>G (GLA) MANE Select	NP_000160.1:p.Tyr216Cys
NR_164783.1:n.726A>G (GLA)