Canonical Allele Identifier: CA517737064

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653812A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398824A>G , CM000685.2:g.101398824A>G	GRCh38
NC_000023.10:g.100653812A>G , CM000685.1:g.100653812A>G	GRCh37
NC_000023.9:g.100540468A>G	NCBI36
NG_007119.1:g.14140T>C , LRG_672:g.14140T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*208T>C (GLA)	ENSP00000501124.2:n.*208T>C
ENST00000674127.2:c.*265T>C (GLA)	ENSP00000501044.2:n.*265T>C
ENST00000710365.1:c.837T>C (GLA)	ENSP00000518234.1:p.Val279=
ENST00000218516.4:c.762T>C (GLA) MANE Select	ENSP00000218516.4:p.Val254=
ENST00000466414.2:n.681T>C (GLA)
ENST00000468823.2:n.1697T>C (GLA)
ENST00000479445.2:n.1159T>C (GLA)
ENST00000480513.6:c.*70T>C (GLA)	ENSP00000497055.1:n.*70T>C
ENST00000486121.6:c.807T>C (GLA)
ENST00000649178.1:c.885T>C (GLA)	ENSP00000498186.1:p.Val295=
ENST00000674127.1:c.862T>C (GLA)	ENSP00000501044.1:n.862T>C
ENST00000674142.1:n.849T>C (GLA)
ENST00000674634.2:c.762T>C (GLA)	ENSP00000502629.2:p.Val254=
ENST00000675592.1:c.762T>C (GLA)	ENSP00000502239.1:p.Val254=
ENST00000675799.1:c.*70T>C (GLA)	ENSP00000502661.1:n.*70T>C
ENST00000675968.1:n.3416T>C (GLA)
ENST00000676156.1:c.726T>C (GLA)	ENSP00000501730.1:p.Val242=
ENST00000676372.1:c.762T>C (GLA)	ENSP00000502805.1:p.Val254=
ENST00000218516.3:c.762T>C (GLA)	ENSP00000218516.3:p.Val254=
ENST00000409170.3:c.300+3367A>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3367A>G
ENST00000409338.5:c.177+7002A>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7002A>G
ENST00000468823.1:n.311T>C (GLA)
ENST00000480513.5:n.600T>C (GLA)
ENST00000493905.6:c.*150T>C (GLA)	ENSP00000476935.1:n.*150T>C
NM_000169.2:c.762T>C , LRG_672t1:c.762T>C (GLA)	NP_000160.1:p.Val254=
NM_001199973.1:c.408+3367A>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3367A>G
NM_001199974.1:c.285+7002A>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7002A>G
XR_938397.1:n.847T>C (GLA)
XR_938397.2:n.868T>C (GLA)
NM_001199973.2:c.300+3367A>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3367A>G
NM_001199974.2:c.177+7002A>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7002A>G
NM_000169.3:c.762T>C (GLA) MANE Select	NP_000160.1:p.Val254=
NR_164783.1:n.841T>C (GLA)