Canonical Allele Identifier: CA413921285

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653365A>G (hg19) ; chrX:g.101398377A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398377A>G , CM000685.2:g.101398377A>G	GRCh38
NC_000023.10:g.100653365A>G , CM000685.1:g.100653365A>G	GRCh37
NC_000023.9:g.100540021A>G	NCBI36
NG_007119.1:g.14587T>C , LRG_672:g.14587T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*438T>C (GLA)	ENSP00000501124.2:n.*438T>C
ENST00000674127.2:c.*495T>C (GLA)	ENSP00000501044.2:n.*495T>C
ENST00000710365.1:c.1067T>C (GLA)	ENSP00000518234.1:p.Leu356Pro
ENST00000218516.4:c.992T>C (GLA) MANE Select	ENSP00000218516.4:p.Leu331Pro
ENST00000466414.2:n.1128T>C (GLA)
ENST00000468823.2:n.2144T>C (GLA)
ENST00000479445.2:n.1606T>C (GLA)
ENST00000480513.6:c.*300T>C (GLA)	ENSP00000497055.1:n.*300T>C
ENST00000486121.6:c.1037T>C (GLA)
ENST00000649178.1:c.1115T>C (GLA)	ENSP00000498186.1:p.Leu372Pro
ENST00000674127.1:c.1092T>C (GLA)	ENSP00000501044.1:n.1092T>C
ENST00000674142.1:n.1296T>C (GLA)
ENST00000674634.2:c.992T>C (GLA)	ENSP00000502629.2:p.Leu331Pro
ENST00000675592.1:c.802-278T>C (GLA)	ENSP00000502239.1:n.802-278T>C
ENST00000675799.1:c.*517T>C (GLA)	ENSP00000502661.1:n.*517T>C
ENST00000675968.1:n.3863T>C (GLA)
ENST00000676156.1:c.956T>C (GLA)	ENSP00000501730.1:p.Leu319Pro
ENST00000676372.1:c.1058T>C (GLA)	ENSP00000502805.1:n.1058T>C
ENST00000218516.3:c.992T>C (GLA)	ENSP00000218516.3:p.Leu331Pro
ENST00000409170.3:c.300+2920A>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2920A>G
ENST00000409338.5:c.177+6555A>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6555A>G
ENST00000466414.1:n.318T>C (GLA)
ENST00000493905.6:c.*380T>C (GLA)	ENSP00000476935.1:n.*380T>C
NM_000169.2:c.992T>C , LRG_672t1:c.992T>C (GLA)	NP_000160.1:p.Leu331Pro
NM_001199973.1:c.408+2920A>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2920A>G
NM_001199974.1:c.285+6555A>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6555A>G
XR_938397.1:n.1077T>C (GLA)
XR_938397.2:n.1098T>C (GLA)
NM_001199973.2:c.300+2920A>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2920A>G
NM_001199974.2:c.177+6555A>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6555A>G
NM_000169.3:c.992T>C (GLA) MANE Select	NP_000160.1:p.Leu331Pro
NR_164783.1:n.1071T>C (GLA)