Canonical Allele Identifier: CA517736831

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653409T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398421T>A , CM000685.2:g.101398421T>A	GRCh38
NC_000023.10:g.100653409T>A , CM000685.1:g.100653409T>A	GRCh37
NC_000023.9:g.100540065T>A	NCBI36
NG_007119.1:g.14543A>T , LRG_672:g.14543A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*394A>T (GLA)	ENSP00000501124.2:n.*394A>T
ENST00000674127.2:c.*451A>T (GLA)	ENSP00000501044.2:n.*451A>T
ENST00000710365.1:c.1023A>T (GLA)	ENSP00000518234.1:p.Val341=
ENST00000218516.4:c.948A>T (GLA) MANE Select	ENSP00000218516.4:p.Val316=
ENST00000466414.2:n.1084A>T (GLA)
ENST00000468823.2:n.2100A>T (GLA)
ENST00000479445.2:n.1562A>T (GLA)
ENST00000480513.6:c.*256A>T (GLA)	ENSP00000497055.1:n.*256A>T
ENST00000486121.6:c.993A>T (GLA)
ENST00000649178.1:c.1071A>T (GLA)	ENSP00000498186.1:p.Val357=
ENST00000674127.1:c.1048A>T (GLA)	ENSP00000501044.1:n.1048A>T
ENST00000674142.1:n.1252A>T (GLA)
ENST00000674634.2:c.948A>T (GLA)	ENSP00000502629.2:p.Val316=
ENST00000675592.1:c.802-322A>T (GLA)	ENSP00000502239.1:n.802-322A>T
ENST00000675799.1:c.*473A>T (GLA)	ENSP00000502661.1:n.*473A>T
ENST00000675968.1:n.3819A>T (GLA)
ENST00000676156.1:c.912A>T (GLA)	ENSP00000501730.1:p.Val304=
ENST00000676372.1:c.1014A>T (GLA)	ENSP00000502805.1:n.1014A>T
ENST00000218516.3:c.948A>T (GLA)	ENSP00000218516.3:p.Val316=
ENST00000409170.3:c.300+2964T>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2964T>A
ENST00000409338.5:c.177+6599T>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6599T>A
ENST00000466414.1:n.274A>T (GLA)
ENST00000493905.6:c.*336A>T (GLA)	ENSP00000476935.1:n.*336A>T
NM_000169.2:c.948A>T , LRG_672t1:c.948A>T (GLA)	NP_000160.1:p.Val316=
NM_001199973.1:c.408+2964T>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2964T>A
NM_001199974.1:c.285+6599T>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6599T>A
XR_938397.1:n.1033A>T (GLA)
XR_938397.2:n.1054A>T (GLA)
NM_001199973.2:c.300+2964T>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2964T>A
NM_001199974.2:c.177+6599T>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6599T>A
NM_000169.3:c.948A>T (GLA) MANE Select	NP_000160.1:p.Val316=
NR_164783.1:n.1027A>T (GLA)