Canonical Allele Identifier: CA413922039

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653435T>G (hg19) ; chrX:g.101398447T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398447T>G , CM000685.2:g.101398447T>G	GRCh38
NC_000023.10:g.100653435T>G , CM000685.1:g.100653435T>G	GRCh37
NC_000023.9:g.100540091T>G	NCBI36
NG_007119.1:g.14517A>C , LRG_672:g.14517A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*368A>C (GLA)	ENSP00000501124.2:n.*368A>C
ENST00000674127.2:c.*425A>C (GLA)	ENSP00000501044.2:n.*425A>C
ENST00000710365.1:c.997A>C (GLA)	ENSP00000518234.1:p.Lys333Gln
ENST00000218516.4:c.922A>C (GLA) MANE Select	ENSP00000218516.4:p.Lys308Gln
ENST00000466414.2:n.1058A>C (GLA)
ENST00000468823.2:n.2074A>C (GLA)
ENST00000479445.2:n.1536A>C (GLA)
ENST00000480513.6:c.*230A>C (GLA)	ENSP00000497055.1:n.*230A>C
ENST00000486121.6:c.967A>C (GLA)
ENST00000649178.1:c.1045A>C (GLA)	ENSP00000498186.1:p.Lys349Gln
ENST00000674127.1:c.1022A>C (GLA)	ENSP00000501044.1:n.1022A>C
ENST00000674142.1:n.1226A>C (GLA)
ENST00000674634.2:c.922A>C (GLA)	ENSP00000502629.2:p.Lys308Gln
ENST00000675592.1:c.801+338A>C (GLA)	ENSP00000502239.1:n.801+338A>C
ENST00000675799.1:c.*447A>C (GLA)	ENSP00000502661.1:n.*447A>C
ENST00000675968.1:n.3793A>C (GLA)
ENST00000676156.1:c.886A>C (GLA)	ENSP00000501730.1:p.Lys296Gln
ENST00000676372.1:c.988A>C (GLA)	ENSP00000502805.1:n.988A>C
ENST00000218516.3:c.922A>C (GLA)	ENSP00000218516.3:p.Lys308Gln
ENST00000409170.3:c.300+2990T>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2990T>G
ENST00000409338.5:c.177+6625T>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6625T>G
ENST00000466414.1:n.248A>C (GLA)
ENST00000493905.6:c.*310A>C (GLA)	ENSP00000476935.1:n.*310A>C
NM_000169.2:c.922A>C , LRG_672t1:c.922A>C (GLA)	NP_000160.1:p.Lys308Gln
NM_001199973.1:c.408+2990T>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2990T>G
NM_001199974.1:c.285+6625T>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6625T>G
XR_938397.1:n.1007A>C (GLA)
XR_938397.2:n.1028A>C (GLA)
NM_001199973.2:c.300+2990T>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2990T>G
NM_001199974.2:c.177+6625T>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6625T>G
NM_000169.3:c.922A>C (GLA) MANE Select	NP_000160.1:p.Lys308Gln
NR_164783.1:n.1001A>C (GLA)