Canonical Allele Identifier: CA517520816

Gene: GLA RPL36A-HNRNPH2

Linked Data

• gnomAD v4: X-101400741-G-T
• MyVariant Identifiers: chrX:g.100655729G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400741G>T , CM000685.2:g.101400741G>T	GRCh38
NC_000023.10:g.100655729G>T , CM000685.1:g.100655729G>T	GRCh37
NC_000023.9:g.100542385G>T	NCBI36
NG_007119.1:g.12223C>A , LRG_672:g.12223C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*10C>A (GLA)	ENSP00000501124.2:n.*10C>A
ENST00000674127.2:c.*10C>A (GLA)	ENSP00000501044.2:n.*10C>A
ENST00000710365.1:c.639C>A (GLA)	ENSP00000518234.1:p.Ser213=
ENST00000218516.4:c.564C>A (GLA) MANE Select	ENSP00000218516.4:p.Ser188=
ENST00000466414.2:n.483C>A (GLA)
ENST00000468823.2:n.1499C>A (GLA)
ENST00000479445.2:n.961C>A (GLA)
ENST00000480513.6:c.547+891C>A (GLA)	ENSP00000497055.1:n.547+891C>A
ENST00000486121.6:c.609C>A (GLA)
ENST00000649178.1:c.687C>A (GLA)	ENSP00000498186.1:p.Ser229=
ENST00000674127.1:c.607C>A (GLA)	ENSP00000501044.1:n.607C>A
ENST00000674142.1:n.651C>A (GLA)
ENST00000674634.2:c.564C>A (GLA)	ENSP00000502629.2:p.Ser188=
ENST00000675592.1:c.564C>A (GLA)	ENSP00000502239.1:p.Ser188=
ENST00000675799.1:c.547+891C>A (GLA)	ENSP00000502661.1:n.547+891C>A
ENST00000675968.1:n.1499C>A (GLA)
ENST00000676156.1:c.528C>A (GLA)	ENSP00000501730.1:p.Ser176=
ENST00000676372.1:c.564C>A (GLA)	ENSP00000502805.1:p.Ser188=
ENST00000218516.3:c.564C>A (GLA)	ENSP00000218516.3:p.Ser188=
ENST00000409170.3:c.300+5284G>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5284G>T
ENST00000409338.5:c.177+8919G>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8919G>T
ENST00000468823.1:n.113C>A (GLA)
ENST00000480513.5:n.477+891C>A (GLA)
ENST00000486121.5:n.609C>A (GLA)
ENST00000493905.6:c.564C>A (GLA)	ENSP00000476935.1:p.Ser188=
NM_000169.2:c.564C>A , LRG_672t1:c.564C>A (GLA)	NP_000160.1:p.Ser188=
NM_001199973.1:c.408+5284G>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5284G>T
NM_001199974.1:c.285+8919G>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8919G>T
XR_938397.1:n.592C>A (GLA)
XR_938397.2:n.613C>A (GLA)
NM_001199973.2:c.300+5284G>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5284G>T
NM_001199974.2:c.177+8919G>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8919G>T
NM_000169.3:c.564C>A (GLA) MANE Select	NP_000160.1:p.Ser188=
NR_164783.1:n.586C>A (GLA)