Canonical Allele Identifier: CA517737084

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653824C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398836C>T , CM000685.2:g.101398836C>T	GRCh38
NC_000023.10:g.100653824C>T , CM000685.1:g.100653824C>T	GRCh37
NC_000023.9:g.100540480C>T	NCBI36
NG_007119.1:g.14128G>A , LRG_672:g.14128G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*196G>A (GLA)	ENSP00000501124.2:n.*196G>A
ENST00000674127.2:c.*253G>A (GLA)	ENSP00000501044.2:n.*253G>A
ENST00000710365.1:c.825G>A (GLA)	ENSP00000518234.1:p.Gln275=
ENST00000218516.4:c.750G>A (GLA) MANE Select	ENSP00000218516.4:p.Gln250=
ENST00000466414.2:n.669G>A (GLA)
ENST00000468823.2:n.1685G>A (GLA)
ENST00000479445.2:n.1147G>A (GLA)
ENST00000480513.6:c.*58G>A (GLA)	ENSP00000497055.1:n.*58G>A
ENST00000486121.6:c.795G>A (GLA)
ENST00000649178.1:c.873G>A (GLA)	ENSP00000498186.1:p.Gln291=
ENST00000674127.1:c.850G>A (GLA)	ENSP00000501044.1:n.850G>A
ENST00000674142.1:n.837G>A (GLA)
ENST00000674634.2:c.750G>A (GLA)	ENSP00000502629.2:p.Gln250=
ENST00000675592.1:c.750G>A (GLA)	ENSP00000502239.1:p.Gln250=
ENST00000675799.1:c.*58G>A (GLA)	ENSP00000502661.1:n.*58G>A
ENST00000675968.1:n.3404G>A (GLA)
ENST00000676156.1:c.714G>A (GLA)	ENSP00000501730.1:p.Gln238=
ENST00000676372.1:c.750G>A (GLA)	ENSP00000502805.1:p.Gln250=
ENST00000218516.3:c.750G>A (GLA)	ENSP00000218516.3:p.Gln250=
ENST00000409170.3:c.300+3379C>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3379C>T
ENST00000409338.5:c.177+7014C>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7014C>T
ENST00000468823.1:n.299G>A (GLA)
ENST00000480513.5:n.588G>A (GLA)
ENST00000493905.6:c.*138G>A (GLA)	ENSP00000476935.1:n.*138G>A
NM_000169.2:c.750G>A , LRG_672t1:c.750G>A (GLA)	NP_000160.1:p.Gln250=
NM_001199973.1:c.408+3379C>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3379C>T
NM_001199974.1:c.285+7014C>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7014C>T
XR_938397.1:n.835G>A (GLA)
XR_938397.2:n.856G>A (GLA)
NM_001199973.2:c.300+3379C>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3379C>T
NM_001199974.2:c.177+7014C>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7014C>T
NM_000169.3:c.750G>A (GLA) MANE Select	NP_000160.1:p.Gln250=
NR_164783.1:n.829G>A (GLA)