Canonical Allele Identifier: CA352896

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 222379
• ClinVar RCV Id: RCV000556577
• dbSNP Id: rs869312396
• MyVariant Identifiers: chrX:g.100653825T>G (hg19) ; chrX:g.101398837T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398837T>G , CM000685.2:g.101398837T>G	GRCh38
NC_000023.10:g.100653825T>G , CM000685.1:g.100653825T>G	GRCh37
NC_000023.9:g.100540481T>G	NCBI36
NG_007119.1:g.14127A>C , LRG_672:g.14127A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*195A>C (GLA)	ENSP00000501124.2:n.*195A>C
ENST00000674127.2:c.*252A>C (GLA)	ENSP00000501044.2:n.*252A>C
ENST00000710365.1:c.824A>C (GLA)	ENSP00000518234.1:p.Gln275Pro
ENST00000218516.4:c.749A>C (GLA) MANE Select	ENSP00000218516.4:p.Gln250Pro
ENST00000466414.2:n.668A>C (GLA)
ENST00000468823.2:n.1684A>C (GLA)
ENST00000479445.2:n.1146A>C (GLA)
ENST00000480513.6:c.*57A>C (GLA)	ENSP00000497055.1:n.*57A>C
ENST00000486121.6:c.794A>C (GLA)
ENST00000649178.1:c.872A>C (GLA)	ENSP00000498186.1:p.Gln291Pro
ENST00000674127.1:c.849A>C (GLA)	ENSP00000501044.1:n.849A>C
ENST00000674142.1:n.836A>C (GLA)
ENST00000674634.2:c.749A>C (GLA)	ENSP00000502629.2:p.Gln250Pro
ENST00000675592.1:c.749A>C (GLA)	ENSP00000502239.1:p.Gln250Pro
ENST00000675799.1:c.*57A>C (GLA)	ENSP00000502661.1:n.*57A>C
ENST00000675968.1:n.3403A>C (GLA)
ENST00000676156.1:c.713A>C (GLA)	ENSP00000501730.1:p.Gln238Pro
ENST00000676372.1:c.749A>C (GLA)	ENSP00000502805.1:p.Gln250Pro
ENST00000218516.3:c.749A>C (GLA)	ENSP00000218516.3:p.Gln250Pro
ENST00000409170.3:c.300+3380T>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3380T>G
ENST00000409338.5:c.177+7015T>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7015T>G
ENST00000468823.1:n.298A>C (GLA)
ENST00000480513.5:n.587A>C (GLA)
ENST00000493905.6:c.*137A>C (GLA)	ENSP00000476935.1:n.*137A>C
NM_000169.2:c.749A>C , LRG_672t1:c.749A>C (GLA)	NP_000160.1:p.Gln250Pro
NM_001199973.1:c.408+3380T>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3380T>G
NM_001199974.1:c.285+7015T>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7015T>G
XR_938397.1:n.834A>C (GLA)
XR_938397.2:n.855A>C (GLA)
NM_001199973.2:c.300+3380T>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3380T>G
NM_001199974.2:c.177+7015T>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7015T>G
NM_000169.3:c.749A>C (GLA) MANE Select	NP_000160.1:p.Gln250Pro
NR_164783.1:n.828A>C (GLA)