Canonical Allele Identifier: CA022050

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 180021
• ClinVar RCV Id: RCV000156824 ; RCV000209285 ; RCV000209022 ; RCV001781498
• dbSNP Id: rs727505292
• MyVariant Identifiers: chrX:g.100653816A>G (hg19) ; chrX:g.101398828A>G (hg38)
• PubMed: PMID:23465405 ; PMID:26415523

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398828A>G , CM000685.2:g.101398828A>G	GRCh38
NC_000023.10:g.100653816A>G , CM000685.1:g.100653816A>G	GRCh37
NC_000023.9:g.100540472A>G	NCBI36
NG_007119.1:g.14136T>C , LRG_672:g.14136T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*204T>C (GLA)	ENSP00000501124.2:n.*204T>C
ENST00000674127.2:c.*261T>C (GLA)	ENSP00000501044.2:n.*261T>C
ENST00000710365.1:c.833T>C (GLA)	ENSP00000518234.1:p.Ile278Thr
ENST00000218516.4:c.758T>C (GLA) MANE Select	ENSP00000218516.4:p.Ile253Thr
ENST00000466414.2:n.677T>C (GLA)
ENST00000468823.2:n.1693T>C (GLA)
ENST00000479445.2:n.1155T>C (GLA)
ENST00000480513.6:c.*66T>C (GLA)	ENSP00000497055.1:n.*66T>C
ENST00000486121.6:c.803T>C (GLA)
ENST00000649178.1:c.881T>C (GLA)	ENSP00000498186.1:p.Ile294Thr
ENST00000674127.1:c.858T>C (GLA)	ENSP00000501044.1:n.858T>C
ENST00000674142.1:n.845T>C (GLA)
ENST00000674634.2:c.758T>C (GLA)	ENSP00000502629.2:p.Ile253Thr
ENST00000675592.1:c.758T>C (GLA)	ENSP00000502239.1:p.Ile253Thr
ENST00000675799.1:c.*66T>C (GLA)	ENSP00000502661.1:n.*66T>C
ENST00000675968.1:n.3412T>C (GLA)
ENST00000676156.1:c.722T>C (GLA)	ENSP00000501730.1:p.Ile241Thr
ENST00000676372.1:c.758T>C (GLA)	ENSP00000502805.1:p.Ile253Thr
ENST00000218516.3:c.758T>C (GLA)	ENSP00000218516.3:p.Ile253Thr
ENST00000409170.3:c.300+3371A>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3371A>G
ENST00000409338.5:c.177+7006A>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7006A>G
ENST00000468823.1:n.307T>C (GLA)
ENST00000480513.5:n.596T>C (GLA)
ENST00000493905.6:c.*146T>C (GLA)	ENSP00000476935.1:n.*146T>C
NM_000169.2:c.758T>C , LRG_672t1:c.758T>C (GLA)	NP_000160.1:p.Ile253Thr
NM_001199973.1:c.408+3371A>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3371A>G
NM_001199974.1:c.285+7006A>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7006A>G
XR_938397.1:n.843T>C (GLA)
XR_938397.2:n.864T>C (GLA)
NM_001199973.2:c.300+3371A>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3371A>G
NM_001199974.2:c.177+7006A>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7006A>G
NM_000169.3:c.758T>C (GLA) MANE Select	NP_000160.1:p.Ile253Thr
NR_164783.1:n.837T>C (GLA)