Canonical Allele Identifier: CA413918788

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100652823G>A (hg19) ; chrX:g.101397835G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397835G>A , CM000685.2:g.101397835G>A	GRCh38
NC_000023.10:g.100652823G>A , CM000685.1:g.100652823G>A	GRCh37
NC_000023.9:g.100539479G>A	NCBI36
NG_007119.1:g.15129C>T , LRG_672:g.15129C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674127.2:c.*767C>T (GLA)	ENSP00000501044.2:n.*767C>T
ENST00000710365.1:c.1339C>T (GLA)	ENSP00000518234.1:p.Gln447Ter
ENST00000218516.4:c.1264C>T (GLA) MANE Select	ENSP00000218516.4:p.Gln422Ter
ENST00000466414.2:n.1400C>T (GLA)
ENST00000468823.2:n.2686C>T (GLA)
ENST00000479445.2:n.1878C>T (GLA)
ENST00000649178.1:c.1387C>T (GLA)	ENSP00000498186.1:p.Gln463Ter
ENST00000674127.1:c.1364C>T (GLA)	ENSP00000501044.1:n.1364C>T
ENST00000674142.1:n.1421+147C>T (GLA)
ENST00000675592.1:c.1066C>T (GLA)	ENSP00000502239.1:p.Gln356Ter
ENST00000675968.1:n.4135C>T (GLA)
ENST00000676156.1:c.1228C>T (GLA)	ENSP00000501730.1:p.Gln410Ter
ENST00000676372.1:c.1330C>T (GLA)	ENSP00000502805.1:n.1330C>T
ENST00000218516.3:c.1264C>T (GLA)	ENSP00000218516.3:p.Gln422Ter
ENST00000409170.3:c.300+2378G>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2378G>A
ENST00000409338.5:c.177+6013G>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6013G>A
ENST00000466414.1:n.590C>T (GLA)
ENST00000493905.6:c.*652C>T (GLA)	ENSP00000476935.1:n.*652C>T
NM_000169.2:c.1264C>T , LRG_672t1:c.1264C>T (GLA)	NP_000160.1:p.Gln422Ter
NM_001199973.1:c.408+2378G>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2378G>A
NM_001199974.1:c.285+6013G>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6013G>A
XR_938397.1:n.1349C>T (GLA)
XR_938397.2:n.1370C>T (GLA)
NM_001199973.2:c.300+2378G>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2378G>A
NM_001199974.2:c.177+6013G>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6013G>A
NM_000169.3:c.1264C>T (GLA) MANE Select	NP_000160.1:p.Gln422Ter
NR_164783.1:n.1343C>T (GLA)