Canonical Allele Identifier: CA413930328

Gene: GLA RPL36A-HNRNPH2

Linked Data

• gnomAD v4: X-101401763-T-G
• MyVariant Identifiers: chrX:g.100656751T>G (hg19) ; chrX:g.101401763T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101401763T>G , CM000685.2:g.101401763T>G	GRCh38
NC_000023.10:g.100656751T>G , CM000685.1:g.100656751T>G	GRCh37
NC_000023.9:g.100543407T>G	NCBI36
NG_007119.1:g.11201A>C , LRG_672:g.11201A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.416A>C (GLA)	ENSP00000501124.2:p.Asn139Thr
ENST00000674127.2:c.416A>C (GLA)	ENSP00000501044.2:p.Asn139Thr
ENST00000710365.1:c.491A>C (GLA)	ENSP00000518234.1:p.Asn164Thr
ENST00000218516.4:c.416A>C (GLA) MANE Select	ENSP00000218516.4:p.Asn139Thr
ENST00000466414.2:n.335A>C (GLA)
ENST00000468823.2:n.477A>C (GLA)
ENST00000479445.2:n.414A>C (GLA)
ENST00000480513.6:c.416A>C (GLA)	ENSP00000497055.1:p.Asn139Thr
ENST00000486121.6:c.346A>C (GLA)
ENST00000649178.1:c.539A>C (GLA)	ENSP00000498186.1:p.Asn180Thr
ENST00000674127.1:c.344A>C (GLA)	ENSP00000501044.1:p.Asn115Thr
ENST00000674142.1:n.503A>C (GLA)
ENST00000674634.2:c.416A>C (GLA)	ENSP00000502629.2:p.Asn139Thr
ENST00000675592.1:c.416A>C (GLA)	ENSP00000502239.1:p.Asn139Thr
ENST00000675799.1:c.416A>C (GLA)	ENSP00000502661.1:p.Asn139Thr
ENST00000675968.1:n.477A>C (GLA)
ENST00000676156.1:c.416A>C (GLA)	ENSP00000501730.1:p.Asn139Thr
ENST00000676372.1:c.416A>C (GLA)	ENSP00000502805.1:p.Asn139Thr
ENST00000218516.3:c.416A>C (GLA)	ENSP00000218516.3:p.Asn139Thr
ENST00000409170.3:c.300+6306T>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+6306T>G
ENST00000409338.5:c.177+9941T>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+9941T>G
ENST00000479445.1:n.400A>C (GLA)
ENST00000480513.5:n.346A>C (GLA)
ENST00000486121.5:n.346A>C (GLA)
ENST00000493905.6:c.416A>C (GLA)	ENSP00000476935.1:p.Asn139Thr
NM_000169.2:c.416A>C , LRG_672t1:c.416A>C (GLA)	NP_000160.1:p.Asn139Thr
NM_001199973.1:c.408+6306T>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+6306T>G
NM_001199974.1:c.285+9941T>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+9941T>G
XR_938397.1:n.444A>C (GLA)
XR_938397.2:n.465A>C (GLA)
NM_001199973.2:c.300+6306T>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+6306T>G
NM_001199974.2:c.177+9941T>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+9941T>G
NM_000169.3:c.416A>C (GLA) MANE Select	NP_000160.1:p.Asn139Thr
NR_164783.1:n.438A>C (GLA)