Canonical Allele Identifier: CA413925000

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653906C>G (hg19) ; chrX:g.101398918C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398918C>G , CM000685.2:g.101398918C>G	GRCh38
NC_000023.10:g.100653906C>G , CM000685.1:g.100653906C>G	GRCh37
NC_000023.9:g.100540562C>G	NCBI36
NG_007119.1:g.14046G>C , LRG_672:g.14046G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*114G>C (GLA)	ENSP00000501124.2:n.*114G>C
ENST00000674127.2:c.*171G>C (GLA)	ENSP00000501044.2:n.*171G>C
ENST00000710365.1:c.743G>C (GLA)	ENSP00000518234.1:p.Cys248Ser
ENST00000218516.4:c.668G>C (GLA) MANE Select	ENSP00000218516.4:p.Cys223Ser
ENST00000466414.2:n.587G>C (GLA)
ENST00000468823.2:n.1603G>C (GLA)
ENST00000479445.2:n.1065G>C (GLA)
ENST00000480513.6:c.576G>C (GLA)	ENSP00000497055.1:p.Leu192=
ENST00000486121.6:c.713G>C (GLA)
ENST00000649178.1:c.791G>C (GLA)	ENSP00000498186.1:p.Cys264Ser
ENST00000674127.1:c.768G>C (GLA)	ENSP00000501044.1:n.768G>C
ENST00000674142.1:n.755G>C (GLA)
ENST00000674634.2:c.668G>C (GLA)	ENSP00000502629.2:p.Cys223Ser
ENST00000675592.1:c.668G>C (GLA)	ENSP00000502239.1:p.Cys223Ser
ENST00000675799.1:c.576G>C (GLA)	ENSP00000502661.1:p.Leu192=
ENST00000675968.1:n.3322G>C (GLA)
ENST00000676156.1:c.632G>C (GLA)	ENSP00000501730.1:p.Cys211Ser
ENST00000676372.1:c.668G>C (GLA)	ENSP00000502805.1:p.Cys223Ser
ENST00000218516.3:c.668G>C (GLA)	ENSP00000218516.3:p.Cys223Ser
ENST00000409170.3:c.300+3461C>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3461C>G
ENST00000409338.5:c.177+7096C>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7096C>G
ENST00000468823.1:n.217G>C (GLA)
ENST00000480513.5:n.506G>C (GLA)
ENST00000486121.5:n.713G>C (GLA)
ENST00000493905.6:c.*56G>C (GLA)	ENSP00000476935.1:n.*56G>C
NM_000169.2:c.668G>C , LRG_672t1:c.668G>C (GLA)	NP_000160.1:p.Cys223Ser
NM_001199973.1:c.408+3461C>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3461C>G
NM_001199974.1:c.285+7096C>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7096C>G
XR_938397.1:n.753G>C (GLA)
XR_938397.2:n.774G>C (GLA)
NM_001199973.2:c.300+3461C>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3461C>G
NM_001199974.2:c.177+7096C>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7096C>G
NM_000169.3:c.668G>C (GLA) MANE Select	NP_000160.1:p.Cys223Ser
NR_164783.1:n.747G>C (GLA)