Canonical Allele Identifier: CA413920200

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100652939A>G (hg19) ; chrX:g.101397951A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397951A>G , CM000685.2:g.101397951A>G	GRCh38
NC_000023.10:g.100652939A>G , CM000685.1:g.100652939A>G	GRCh37
NC_000023.9:g.100539595A>G	NCBI36
NG_007119.1:g.15013T>C , LRG_672:g.15013T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*594T>C (GLA)	ENSP00000501124.2:n.*594T>C
ENST00000674127.2:c.*651T>C (GLA)	ENSP00000501044.2:n.*651T>C
ENST00000710365.1:c.1223T>C (GLA)	ENSP00000518234.1:p.Phe408Ser
ENST00000218516.4:c.1148T>C (GLA) MANE Select	ENSP00000218516.4:p.Phe383Ser
ENST00000466414.2:n.1284T>C (GLA)
ENST00000468823.2:n.2570T>C (GLA)
ENST00000479445.2:n.1762T>C (GLA)
ENST00000480513.6:c.*456T>C (GLA)	ENSP00000497055.1:n.*456T>C
ENST00000486121.6:c.1193T>C (GLA)
ENST00000649178.1:c.1271T>C (GLA)	ENSP00000498186.1:p.Phe424Ser
ENST00000674127.1:c.1248T>C (GLA)	ENSP00000501044.1:n.1248T>C
ENST00000674142.1:n.1421+31T>C (GLA)
ENST00000675592.1:c.950T>C (GLA)	ENSP00000502239.1:p.Phe317Ser
ENST00000675799.1:c.*673T>C (GLA)	ENSP00000502661.1:n.*673T>C
ENST00000675968.1:n.4019T>C (GLA)
ENST00000676156.1:c.1112T>C (GLA)	ENSP00000501730.1:p.Phe371Ser
ENST00000676372.1:c.1214T>C (GLA)	ENSP00000502805.1:n.1214T>C
ENST00000218516.3:c.1148T>C (GLA)	ENSP00000218516.3:p.Phe383Ser
ENST00000409170.3:c.300+2494A>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2494A>G
ENST00000409338.5:c.177+6129A>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6129A>G
ENST00000466414.1:n.474T>C (GLA)
ENST00000493905.6:c.*536T>C (GLA)	ENSP00000476935.1:n.*536T>C
NM_000169.2:c.1148T>C , LRG_672t1:c.1148T>C (GLA)	NP_000160.1:p.Phe383Ser
NM_001199973.1:c.408+2494A>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2494A>G
NM_001199974.1:c.285+6129A>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6129A>G
XR_938397.1:n.1233T>C (GLA)
XR_938397.2:n.1254T>C (GLA)
NM_001199973.2:c.300+2494A>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2494A>G
NM_001199974.2:c.177+6129A>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6129A>G
NM_000169.3:c.1148T>C (GLA) MANE Select	NP_000160.1:p.Phe383Ser
NR_164783.1:n.1227T>C (GLA)