Canonical Allele Identifier: CA413921407

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653385C>G (hg19) ; chrX:g.101398397C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398397C>G , CM000685.2:g.101398397C>G	GRCh38
NC_000023.10:g.100653385C>G , CM000685.1:g.100653385C>G	GRCh37
NC_000023.9:g.100540041C>G	NCBI36
NG_007119.1:g.14567G>C , LRG_672:g.14567G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*418G>C (GLA)	ENSP00000501124.2:n.*418G>C
ENST00000674127.2:c.*475G>C (GLA)	ENSP00000501044.2:n.*475G>C
ENST00000710365.1:c.1047G>C (GLA)	ENSP00000518234.1:p.Leu349Phe
ENST00000218516.4:c.972G>C (GLA) MANE Select	ENSP00000218516.4:p.Leu324Phe
ENST00000466414.2:n.1108G>C (GLA)
ENST00000468823.2:n.2124G>C (GLA)
ENST00000479445.2:n.1586G>C (GLA)
ENST00000480513.6:c.*280G>C (GLA)	ENSP00000497055.1:n.*280G>C
ENST00000486121.6:c.1017G>C (GLA)
ENST00000649178.1:c.1095G>C (GLA)	ENSP00000498186.1:p.Leu365Phe
ENST00000674127.1:c.1072G>C (GLA)	ENSP00000501044.1:n.1072G>C
ENST00000674142.1:n.1276G>C (GLA)
ENST00000674634.2:c.972G>C (GLA)	ENSP00000502629.2:p.Leu324Phe
ENST00000675592.1:c.802-298G>C (GLA)	ENSP00000502239.1:n.802-298G>C
ENST00000675799.1:c.*497G>C (GLA)	ENSP00000502661.1:n.*497G>C
ENST00000675968.1:n.3843G>C (GLA)
ENST00000676156.1:c.936G>C (GLA)	ENSP00000501730.1:p.Leu312Phe
ENST00000676372.1:c.1038G>C (GLA)	ENSP00000502805.1:n.1038G>C
ENST00000218516.3:c.972G>C (GLA)	ENSP00000218516.3:p.Leu324Phe
ENST00000409170.3:c.300+2940C>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2940C>G
ENST00000409338.5:c.177+6575C>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6575C>G
ENST00000466414.1:n.298G>C (GLA)
ENST00000493905.6:c.*360G>C (GLA)	ENSP00000476935.1:n.*360G>C
NM_000169.2:c.972G>C , LRG_672t1:c.972G>C (GLA)	NP_000160.1:p.Leu324Phe
NM_001199973.1:c.408+2940C>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2940C>G
NM_001199974.1:c.285+6575C>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6575C>G
XR_938397.1:n.1057G>C (GLA)
XR_938397.2:n.1078G>C (GLA)
NM_001199973.2:c.300+2940C>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2940C>G
NM_001199974.2:c.177+6575C>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6575C>G
NM_000169.3:c.972G>C (GLA) MANE Select	NP_000160.1:p.Leu324Phe
NR_164783.1:n.1051G>C (GLA)