Canonical Allele Identifier: CA517736563

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653055G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398067G>C , CM000685.2:g.101398067G>C	GRCh38
NC_000023.10:g.100653055G>C , CM000685.1:g.100653055G>C	GRCh37
NC_000023.9:g.100539711G>C	NCBI36
NG_007119.1:g.14897C>G , LRG_672:g.14897C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*478C>G (GLA)	ENSP00000501124.2:n.*478C>G
ENST00000674127.2:c.*535C>G (GLA)	ENSP00000501044.2:n.*535C>G
ENST00000710365.1:c.1107C>G (GLA)	ENSP00000518234.1:p.Leu369=
ENST00000218516.4:c.1032C>G (GLA) MANE Select	ENSP00000218516.4:p.Leu344=
ENST00000466414.2:n.1168C>G (GLA)
ENST00000468823.2:n.2454C>G (GLA)
ENST00000479445.2:n.1646C>G (GLA)
ENST00000480513.6:c.*340C>G (GLA)	ENSP00000497055.1:n.*340C>G
ENST00000486121.6:c.1077C>G (GLA)
ENST00000649178.1:c.1155C>G (GLA)	ENSP00000498186.1:p.Leu385=
ENST00000674127.1:c.1132C>G (GLA)	ENSP00000501044.1:n.1132C>G
ENST00000674142.1:n.1336C>G (GLA)
ENST00000675592.1:c.834C>G (GLA)	ENSP00000502239.1:p.Leu278=
ENST00000675799.1:c.*557C>G (GLA)	ENSP00000502661.1:n.*557C>G
ENST00000675968.1:n.3903C>G (GLA)
ENST00000676156.1:c.996C>G (GLA)	ENSP00000501730.1:p.Leu332=
ENST00000676372.1:c.1098C>G (GLA)	ENSP00000502805.1:n.1098C>G
ENST00000218516.3:c.1032C>G (GLA)	ENSP00000218516.3:p.Leu344=
ENST00000409170.3:c.300+2610G>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2610G>C
ENST00000409338.5:c.177+6245G>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6245G>C
ENST00000466414.1:n.358C>G (GLA)
ENST00000493905.6:c.*420C>G (GLA)	ENSP00000476935.1:n.*420C>G
NM_000169.2:c.1032C>G , LRG_672t1:c.1032C>G (GLA)	NP_000160.1:p.Leu344=
NM_001199973.1:c.408+2610G>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2610G>C
NM_001199974.1:c.285+6245G>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6245G>C
XR_938397.1:n.1117C>G (GLA)
XR_938397.2:n.1138C>G (GLA)
NM_001199973.2:c.300+2610G>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2610G>C
NM_001199974.2:c.177+6245G>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6245G>C
NM_000169.3:c.1032C>G (GLA) MANE Select	NP_000160.1:p.Leu344=
NR_164783.1:n.1111C>G (GLA)