Canonical Allele Identifier: CA413918763

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100652820T>G (hg19) ; chrX:g.101397832T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397832T>G , CM000685.2:g.101397832T>G	GRCh38
NC_000023.10:g.100652820T>G , CM000685.1:g.100652820T>G	GRCh37
NC_000023.9:g.100539476T>G	NCBI36
NG_007119.1:g.15132A>C , LRG_672:g.15132A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674127.2:c.*770A>C (GLA)	ENSP00000501044.2:n.*770A>C
ENST00000710365.1:c.1342A>C (GLA)	ENSP00000518234.1:p.Met448Leu
ENST00000218516.4:c.1267A>C (GLA) MANE Select	ENSP00000218516.4:p.Met423Leu
ENST00000466414.2:n.1403A>C (GLA)
ENST00000468823.2:n.2689A>C (GLA)
ENST00000479445.2:n.1881A>C (GLA)
ENST00000649178.1:c.1390A>C (GLA)	ENSP00000498186.1:p.Met464Leu
ENST00000674127.1:c.1367A>C (GLA)	ENSP00000501044.1:n.1367A>C
ENST00000674142.1:n.1421+150A>C (GLA)
ENST00000675592.1:c.1069A>C (GLA)	ENSP00000502239.1:p.Met357Leu
ENST00000675968.1:n.4138A>C (GLA)
ENST00000676156.1:c.1231A>C (GLA)	ENSP00000501730.1:p.Met411Leu
ENST00000676372.1:c.1333A>C (GLA)	ENSP00000502805.1:n.1333A>C
ENST00000218516.3:c.1267A>C (GLA)	ENSP00000218516.3:p.Met423Leu
ENST00000409170.3:c.300+2375T>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2375T>G
ENST00000409338.5:c.177+6010T>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6010T>G
ENST00000466414.1:n.593A>C (GLA)
ENST00000493905.6:c.*655A>C (GLA)	ENSP00000476935.1:n.*655A>C
NM_000169.2:c.1267A>C , LRG_672t1:c.1267A>C (GLA)	NP_000160.1:p.Met423Leu
NM_001199973.1:c.408+2375T>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2375T>G
NM_001199974.1:c.285+6010T>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6010T>G
XR_938397.1:n.1352A>C (GLA)
XR_938397.2:n.1373A>C (GLA)
NM_001199973.2:c.300+2375T>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2375T>G
NM_001199974.2:c.177+6010T>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6010T>G
NM_000169.3:c.1267A>C (GLA) MANE Select	NP_000160.1:p.Met423Leu
NR_164783.1:n.1346A>C (GLA)