Canonical Allele Identifier: CA10606043

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 288308
• ClinVar RCV Id: RCV000324526 ; RCV000726143
• dbSNP Id: rs886044879
• gnomAD v4: X-101400691-G-A
• MyVariant Identifiers: chrX:g.100655679G>A (hg19) ; chrX:g.101400691G>A (hg38)
• PubMed: PMID:15713906 ; PMID:15776423 ; PMID:25382311

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400691G>A , CM000685.2:g.101400691G>A	GRCh38
NC_000023.10:g.100655679G>A , CM000685.1:g.100655679G>A	GRCh37
NC_000023.9:g.100542335G>A	NCBI36
NG_007119.1:g.12273C>T , LRG_672:g.12273C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*60C>T (GLA)	ENSP00000501124.2:n.*60C>T
ENST00000674127.2:c.*60C>T (GLA)	ENSP00000501044.2:n.*60C>T
ENST00000710365.1:c.689C>T (GLA)	ENSP00000518234.1:p.Pro230Leu
ENST00000218516.4:c.614C>T (GLA) MANE Select	ENSP00000218516.4:p.Pro205Leu
ENST00000466414.2:n.533C>T (GLA)
ENST00000468823.2:n.1549C>T (GLA)
ENST00000479445.2:n.1011C>T (GLA)
ENST00000480513.6:c.547+941C>T (GLA)	ENSP00000497055.1:n.547+941C>T
ENST00000486121.6:c.659C>T (GLA)
ENST00000649178.1:c.737C>T (GLA)	ENSP00000498186.1:p.Pro246Leu
ENST00000674127.1:c.657C>T (GLA)	ENSP00000501044.1:n.657C>T
ENST00000674142.1:n.701C>T (GLA)
ENST00000674634.2:c.614C>T (GLA)	ENSP00000502629.2:p.Pro205Leu
ENST00000675592.1:c.614C>T (GLA)	ENSP00000502239.1:p.Pro205Leu
ENST00000675799.1:c.547+941C>T (GLA)	ENSP00000502661.1:n.547+941C>T
ENST00000675968.1:n.1549C>T (GLA)
ENST00000676156.1:c.578C>T (GLA)	ENSP00000501730.1:p.Pro193Leu
ENST00000676372.1:c.614C>T (GLA)	ENSP00000502805.1:p.Pro205Leu
ENST00000218516.3:c.614C>T (GLA)	ENSP00000218516.3:p.Pro205Leu
ENST00000409170.3:c.300+5234G>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5234G>A
ENST00000409338.5:c.177+8869G>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8869G>A
ENST00000468823.1:n.163C>T (GLA)
ENST00000480513.5:n.477+941C>T (GLA)
ENST00000486121.5:n.659C>T (GLA)
ENST00000493905.6:c.614C>T (GLA)	ENSP00000476935.1:p.Pro205Leu
NM_000169.2:c.614C>T , LRG_672t1:c.614C>T (GLA)	NP_000160.1:p.Pro205Leu
NM_001199973.1:c.408+5234G>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5234G>A
NM_001199974.1:c.285+8869G>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8869G>A
XR_938397.1:n.642C>T (GLA)
XR_938397.2:n.663C>T (GLA)
NM_001199973.2:c.300+5234G>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5234G>A
NM_001199974.2:c.177+8869G>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8869G>A
NM_000169.3:c.614C>T (GLA) MANE Select	NP_000160.1:p.Pro205Leu
NR_164783.1:n.636C>T (GLA)