Canonical Allele Identifier: CA413921214

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653069A>C (hg19) ; chrX:g.101398081A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398081A>C , CM000685.2:g.101398081A>C	GRCh38
NC_000023.10:g.100653069A>C , CM000685.1:g.100653069A>C	GRCh37
NC_000023.9:g.100539725A>C	NCBI36
NG_007119.1:g.14883T>G , LRG_672:g.14883T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*464T>G (GLA)	ENSP00000501124.2:n.*464T>G
ENST00000674127.2:c.*521T>G (GLA)	ENSP00000501044.2:n.*521T>G
ENST00000710365.1:c.1093T>G (GLA)	ENSP00000518234.1:p.Trp365Gly
ENST00000218516.4:c.1018T>G (GLA) MANE Select	ENSP00000218516.4:p.Trp340Gly
ENST00000466414.2:n.1154T>G (GLA)
ENST00000468823.2:n.2440T>G (GLA)
ENST00000479445.2:n.1632T>G (GLA)
ENST00000480513.6:c.*326T>G (GLA)	ENSP00000497055.1:n.*326T>G
ENST00000486121.6:c.1063T>G (GLA)
ENST00000649178.1:c.1141T>G (GLA)	ENSP00000498186.1:p.Trp381Gly
ENST00000674127.1:c.1118T>G (GLA)	ENSP00000501044.1:n.1118T>G
ENST00000674142.1:n.1322T>G (GLA)
ENST00000675592.1:c.820T>G (GLA)	ENSP00000502239.1:p.Trp274Gly
ENST00000675799.1:c.*543T>G (GLA)	ENSP00000502661.1:n.*543T>G
ENST00000675968.1:n.3889T>G (GLA)
ENST00000676156.1:c.982T>G (GLA)	ENSP00000501730.1:p.Trp328Gly
ENST00000676372.1:c.1084T>G (GLA)	ENSP00000502805.1:n.1084T>G
ENST00000218516.3:c.1018T>G (GLA)	ENSP00000218516.3:p.Trp340Gly
ENST00000409170.3:c.300+2624A>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2624A>C
ENST00000409338.5:c.177+6259A>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6259A>C
ENST00000466414.1:n.344T>G (GLA)
ENST00000493905.6:c.*406T>G (GLA)	ENSP00000476935.1:n.*406T>G
NM_000169.2:c.1018T>G , LRG_672t1:c.1018T>G (GLA)	NP_000160.1:p.Trp340Gly
NM_001199973.1:c.408+2624A>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2624A>C
NM_001199974.1:c.285+6259A>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6259A>C
XR_938397.1:n.1103T>G (GLA)
XR_938397.2:n.1124T>G (GLA)
NM_001199973.2:c.300+2624A>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2624A>C
NM_001199974.2:c.177+6259A>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6259A>C
NM_000169.3:c.1018T>G (GLA) MANE Select	NP_000160.1:p.Trp340Gly
NR_164783.1:n.1097T>G (GLA)