Canonical Allele Identifier: CA10605590

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 286849
• ClinVar RCV Id: RCV000317291 ; RCV000984268
• dbSNP Id: rs886044860
• MyVariant Identifiers: chrX:g.100653356A>G (hg19) ; chrX:g.101398368A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398368A>G , CM000685.2:g.101398368A>G	GRCh38
NC_000023.10:g.100653356A>G , CM000685.1:g.100653356A>G	GRCh37
NC_000023.9:g.100540012A>G	NCBI36
NG_007119.1:g.14596T>C , LRG_672:g.14596T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*445+2T>C (GLA)	ENSP00000501124.2:n.*445+2T>C
ENST00000674127.2:c.*502+2T>C (GLA)	ENSP00000501044.2:n.*502+2T>C
ENST00000710365.1:c.1074+2T>C (GLA)	ENSP00000518234.1:n.1074+2T>C
ENST00000218516.4:c.999+2T>C (GLA) MANE Select	ENSP00000218516.4:n.999+2T>C
ENST00000466414.2:n.1135+2T>C (GLA)
ENST00000468823.2:n.2153T>C (GLA)
ENST00000479445.2:n.1613+2T>C (GLA)
ENST00000480513.6:c.*307+2T>C (GLA)	ENSP00000497055.1:n.*307+2T>C
ENST00000486121.6:c.1044+2T>C (GLA)
ENST00000649178.1:c.1122+2T>C (GLA)	ENSP00000498186.1:n.1122+2T>C
ENST00000674127.1:c.1099+2T>C (GLA)	ENSP00000501044.1:n.1099+2T>C
ENST00000674142.1:n.1303+2T>C (GLA)
ENST00000674634.2:c.1001T>C (GLA)	ENSP00000502629.2:p.Val334Ala
ENST00000675592.1:c.802-269T>C (GLA)	ENSP00000502239.1:n.802-269T>C
ENST00000675799.1:c.*524+2T>C (GLA)	ENSP00000502661.1:n.*524+2T>C
ENST00000675968.1:n.3870+2T>C (GLA)
ENST00000676156.1:c.963+2T>C (GLA)	ENSP00000501730.1:n.963+2T>C
ENST00000676372.1:c.1065+2T>C (GLA)	ENSP00000502805.1:n.1065+2T>C
ENST00000218516.3:c.999+2T>C (GLA)	ENSP00000218516.3:n.999+2T>C
ENST00000409170.3:c.300+2911A>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2911A>G
ENST00000409338.5:c.177+6546A>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6546A>G
ENST00000466414.1:n.325+2T>C (GLA)
ENST00000493905.6:c.*387+2T>C (GLA)	ENSP00000476935.1:n.*387+2T>C
NM_000169.2:c.999+2T>C , LRG_672t1:c.999+2T>C (GLA)	NP_000160.1:n.999+2T>C
NM_001199973.1:c.408+2911A>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2911A>G
NM_001199974.1:c.285+6546A>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6546A>G
XR_938397.1:n.1084+2T>C (GLA)
XR_938397.2:n.1105+2T>C (GLA)
NM_001199973.2:c.300+2911A>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2911A>G
NM_001199974.2:c.177+6546A>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6546A>G
NM_000169.3:c.999+2T>C (GLA) MANE Select	NP_000160.1:n.999+2T>C
NR_164783.1:n.1078+2T>C (GLA)