Canonical Allele Identifier: CA413919830

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100652910T>C (hg19) ; chrX:g.101397922T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397922T>C , CM000685.2:g.101397922T>C	GRCh38
NC_000023.10:g.100652910T>C , CM000685.1:g.100652910T>C	GRCh37
NC_000023.9:g.100539566T>C	NCBI36
NG_007119.1:g.15042A>G , LRG_672:g.15042A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674127.2:c.*680A>G (GLA)	ENSP00000501044.2:n.*680A>G
ENST00000710365.1:c.1252A>G (GLA)	ENSP00000518234.1:p.Lys418Glu
ENST00000218516.4:c.1177A>G (GLA) MANE Select	ENSP00000218516.4:p.Lys393Glu
ENST00000466414.2:n.1313A>G (GLA)
ENST00000468823.2:n.2599A>G (GLA)
ENST00000479445.2:n.1791A>G (GLA)
ENST00000649178.1:c.1300A>G (GLA)	ENSP00000498186.1:p.Lys434Glu
ENST00000674127.1:c.1277A>G (GLA)	ENSP00000501044.1:n.1277A>G
ENST00000674142.1:n.1421+60A>G (GLA)
ENST00000675592.1:c.979A>G (GLA)	ENSP00000502239.1:p.Lys327Glu
ENST00000675799.1:c.*702A>G (GLA)	ENSP00000502661.1:n.*702A>G
ENST00000675968.1:n.4048A>G (GLA)
ENST00000676156.1:c.1141A>G (GLA)	ENSP00000501730.1:p.Lys381Glu
ENST00000676372.1:c.1243A>G (GLA)	ENSP00000502805.1:n.1243A>G
ENST00000218516.3:c.1177A>G (GLA)	ENSP00000218516.3:p.Lys393Glu
ENST00000409170.3:c.300+2465T>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2465T>C
ENST00000409338.5:c.177+6100T>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6100T>C
ENST00000466414.1:n.503A>G (GLA)
ENST00000493905.6:c.*565A>G (GLA)	ENSP00000476935.1:n.*565A>G
NM_000169.2:c.1177A>G , LRG_672t1:c.1177A>G (GLA)	NP_000160.1:p.Lys393Glu
NM_001199973.1:c.408+2465T>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2465T>C
NM_001199974.1:c.285+6100T>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6100T>C
XR_938397.1:n.1262A>G (GLA)
XR_938397.2:n.1283A>G (GLA)
NM_001199973.2:c.300+2465T>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2465T>C
NM_001199974.2:c.177+6100T>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6100T>C
NM_000169.3:c.1177A>G (GLA) MANE Select	NP_000160.1:p.Lys393Glu
NR_164783.1:n.1256A>G (GLA)