Canonical Allele Identifier: CA413924231

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653827G>C (hg19) ; chrX:g.101398839G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398839G>C , CM000685.2:g.101398839G>C	GRCh38
NC_000023.10:g.100653827G>C , CM000685.1:g.100653827G>C	GRCh37
NC_000023.9:g.100540483G>C	NCBI36
NG_007119.1:g.14125C>G , LRG_672:g.14125C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*193C>G (GLA)	ENSP00000501124.2:n.*193C>G
ENST00000674127.2:c.*250C>G (GLA)	ENSP00000501044.2:n.*250C>G
ENST00000710365.1:c.822C>G (GLA)	ENSP00000518234.1:p.Asn274Lys
ENST00000218516.4:c.747C>G (GLA) MANE Select	ENSP00000218516.4:p.Asn249Lys
ENST00000466414.2:n.666C>G (GLA)
ENST00000468823.2:n.1682C>G (GLA)
ENST00000479445.2:n.1144C>G (GLA)
ENST00000480513.6:c.*55C>G (GLA)	ENSP00000497055.1:n.*55C>G
ENST00000486121.6:c.792C>G (GLA)
ENST00000649178.1:c.870C>G (GLA)	ENSP00000498186.1:p.Asn290Lys
ENST00000674127.1:c.847C>G (GLA)	ENSP00000501044.1:n.847C>G
ENST00000674142.1:n.834C>G (GLA)
ENST00000674634.2:c.747C>G (GLA)	ENSP00000502629.2:p.Asn249Lys
ENST00000675592.1:c.747C>G (GLA)	ENSP00000502239.1:p.Asn249Lys
ENST00000675799.1:c.*55C>G (GLA)	ENSP00000502661.1:n.*55C>G
ENST00000675968.1:n.3401C>G (GLA)
ENST00000676156.1:c.711C>G (GLA)	ENSP00000501730.1:p.Asn237Lys
ENST00000676372.1:c.747C>G (GLA)	ENSP00000502805.1:p.Asn249Lys
ENST00000218516.3:c.747C>G (GLA)	ENSP00000218516.3:p.Asn249Lys
ENST00000409170.3:c.300+3382G>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3382G>C
ENST00000409338.5:c.177+7017G>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7017G>C
ENST00000468823.1:n.296C>G (GLA)
ENST00000480513.5:n.585C>G (GLA)
ENST00000493905.6:c.*135C>G (GLA)	ENSP00000476935.1:n.*135C>G
NM_000169.2:c.747C>G , LRG_672t1:c.747C>G (GLA)	NP_000160.1:p.Asn249Lys
NM_001199973.1:c.408+3382G>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3382G>C
NM_001199974.1:c.285+7017G>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7017G>C
XR_938397.1:n.832C>G (GLA)
XR_938397.2:n.853C>G (GLA)
NM_001199973.2:c.300+3382G>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3382G>C
NM_001199974.2:c.177+7017G>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7017G>C
NM_000169.3:c.747C>G (GLA) MANE Select	NP_000160.1:p.Asn249Lys
NR_164783.1:n.826C>G (GLA)