Canonical Allele Identifier: CA021500

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 92541
• ClinVar RCV Id: RCV000078266 ; RCV000723538
• dbSNP Id: rs398123201
• MyVariant Identifiers: chrX:g.100662767A>G (hg19) ; chrX:g.101407779A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101407779A>G , CM000685.2:g.101407779A>G	GRCh38
NC_000023.10:g.100662767A>G , CM000685.1:g.100662767A>G	GRCh37
NC_000023.9:g.100549423A>G	NCBI36
NG_007119.1:g.5185T>C , LRG_672:g.5185T>C
NG_016327.1:g.4577A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.125T>C (GLA)	ENSP00000501124.2:p.Met42Thr
ENST00000674127.2:c.125T>C (GLA)	ENSP00000501044.2:p.Met42Thr
ENST00000710365.1:c.125T>C (GLA)	ENSP00000518234.1:p.Met42Thr
ENST00000218516.4:c.125T>C (GLA) MANE Select	ENSP00000218516.4:p.Met42Thr
ENST00000466414.2:n.44T>C (GLA)
ENST00000468823.2:n.186T>C (GLA)
ENST00000479445.2:n.123T>C (GLA)
ENST00000480513.6:c.125T>C (GLA)	ENSP00000497055.1:p.Met42Thr
ENST00000486121.6:c.55T>C (GLA)
ENST00000649178.1:c.125T>C (GLA)	ENSP00000498186.1:p.Met42Thr
ENST00000674127.1:c.53T>C (GLA)	ENSP00000501044.1:p.Met18Thr
ENST00000674142.1:n.212T>C (GLA)
ENST00000674634.2:c.125T>C (GLA)	ENSP00000502629.2:p.Met42Thr
ENST00000675592.1:c.125T>C (GLA)	ENSP00000502239.1:p.Met42Thr
ENST00000675799.1:c.125T>C (GLA)	ENSP00000502661.1:p.Met42Thr
ENST00000675968.1:n.186T>C (GLA)
ENST00000676156.1:c.125T>C (GLA)	ENSP00000501730.1:p.Met42Thr
ENST00000676372.1:c.125T>C (GLA)	ENSP00000502805.1:p.Met42Thr
ENST00000218516.3:c.125T>C (GLA)	ENSP00000218516.3:p.Met42Thr
ENST00000409170.3:c.301-4157A>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.301-4157A>G
ENST00000409338.5:c.178-4157A>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.178-4157A>G
ENST00000479445.1:n.109T>C (GLA)
ENST00000480513.5:n.55T>C (GLA)
ENST00000486121.5:n.55T>C (GLA)
ENST00000493905.6:c.125T>C (GLA)	ENSP00000476935.1:p.Met42Thr
NM_000169.2:c.125T>C , LRG_672t1:c.125T>C (GLA)	NP_000160.1:p.Met42Thr
NM_001199973.1:c.409-4157A>G (RPL36A-HNRNPH2)	NP_001186902.1:n.409-4157A>G
NM_001199974.1:c.286-4157A>G (RPL36A-HNRNPH2)	NP_001186903.1:n.286-4157A>G
XR_938397.1:n.153T>C (GLA)
XR_938397.2:n.174T>C (GLA)
NM_001199973.2:c.301-4157A>G (RPL36A-HNRNPH2)	NP_001186902.2:n.301-4157A>G
NM_001199974.2:c.178-4157A>G (RPL36A-HNRNPH2)	NP_001186903.2:n.178-4157A>G
NM_000169.3:c.125T>C (GLA) MANE Select	NP_000160.1:p.Met42Thr
NR_164783.1:n.147T>C (GLA)