Canonical Allele Identifier: CA333093204

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 1410639
• ClinVar RCV Id: RCV001928138
• dbSNP Id: rs111812846
• MyVariant Identifiers: chrX:g.100653483C>T (hg19) ; chrX:g.101398495C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398495C>T , CM000685.2:g.101398495C>T	GRCh38
NC_000023.10:g.100653483C>T , CM000685.1:g.100653483C>T	GRCh37
NC_000023.9:g.100540139C>T	NCBI36
NG_007119.1:g.14469G>A , LRG_672:g.14469G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*320G>A (GLA)	ENSP00000501124.2:n.*320G>A
ENST00000674127.2:c.*377G>A (GLA)	ENSP00000501044.2:n.*377G>A
ENST00000710365.1:c.949G>A (GLA)	ENSP00000518234.1:p.Ala317Thr
ENST00000218516.4:c.874G>A (GLA) MANE Select	ENSP00000218516.4:p.Ala292Thr
ENST00000466414.2:n.1010G>A (GLA)
ENST00000468823.2:n.2026G>A (GLA)
ENST00000479445.2:n.1488G>A (GLA)
ENST00000480513.6:c.*182G>A (GLA)	ENSP00000497055.1:n.*182G>A
ENST00000486121.6:c.919G>A (GLA)
ENST00000649178.1:c.997G>A (GLA)	ENSP00000498186.1:p.Ala333Thr
ENST00000674127.1:c.974G>A (GLA)	ENSP00000501044.1:n.974G>A
ENST00000674142.1:n.1178G>A (GLA)
ENST00000674634.2:c.874G>A (GLA)	ENSP00000502629.2:p.Ala292Thr
ENST00000675592.1:c.801+290G>A (GLA)	ENSP00000502239.1:n.801+290G>A
ENST00000675799.1:c.*399G>A (GLA)	ENSP00000502661.1:n.*399G>A
ENST00000675968.1:n.3745G>A (GLA)
ENST00000676156.1:c.838G>A (GLA)	ENSP00000501730.1:p.Ala280Thr
ENST00000676372.1:c.940G>A (GLA)	ENSP00000502805.1:n.940G>A
ENST00000218516.3:c.874G>A (GLA)	ENSP00000218516.3:p.Ala292Thr
ENST00000409170.3:c.300+3038C>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3038C>T
ENST00000409338.5:c.177+6673C>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6673C>T
ENST00000466414.1:n.200G>A (GLA)
ENST00000493905.6:c.*262G>A (GLA)	ENSP00000476935.1:n.*262G>A
NM_000169.2:c.874G>A , LRG_672t1:c.874G>A (GLA)	NP_000160.1:p.Ala292Thr
NM_001199973.1:c.408+3038C>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3038C>T
NM_001199974.1:c.285+6673C>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6673C>T
XR_938397.1:n.959G>A (GLA)
XR_938397.2:n.980G>A (GLA)
NM_001199973.2:c.300+3038C>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3038C>T
NM_001199974.2:c.177+6673C>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6673C>T
NM_000169.3:c.874G>A (GLA) MANE Select	NP_000160.1:p.Ala292Thr
NR_164783.1:n.953G>A (GLA)