Canonical Allele Identifier: CA413927743

Gene: GLA RPL36A-HNRNPH2

Linked Data

• gnomAD v4: X-101400731-T-C
• MyVariant Identifiers: chrX:g.100655719T>C (hg19) ; chrX:g.101400731T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400731T>C , CM000685.2:g.101400731T>C	GRCh38
NC_000023.10:g.100655719T>C , CM000685.1:g.100655719T>C	GRCh37
NC_000023.9:g.100542375T>C	NCBI36
NG_007119.1:g.12233A>G , LRG_672:g.12233A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*20A>G (GLA)	ENSP00000501124.2:n.*20A>G
ENST00000674127.2:c.*20A>G (GLA)	ENSP00000501044.2:n.*20A>G
ENST00000710365.1:c.649A>G (GLA)	ENSP00000518234.1:p.Asn217Asp
ENST00000218516.4:c.574A>G (GLA) MANE Select	ENSP00000218516.4:p.Asn192Asp
ENST00000466414.2:n.493A>G (GLA)
ENST00000468823.2:n.1509A>G (GLA)
ENST00000479445.2:n.971A>G (GLA)
ENST00000480513.6:c.547+901A>G (GLA)	ENSP00000497055.1:n.547+901A>G
ENST00000486121.6:c.619A>G (GLA)
ENST00000649178.1:c.697A>G (GLA)	ENSP00000498186.1:p.Asn233Asp
ENST00000674127.1:c.617A>G (GLA)	ENSP00000501044.1:n.617A>G
ENST00000674142.1:n.661A>G (GLA)
ENST00000674634.2:c.574A>G (GLA)	ENSP00000502629.2:p.Asn192Asp
ENST00000675592.1:c.574A>G (GLA)	ENSP00000502239.1:p.Asn192Asp
ENST00000675799.1:c.547+901A>G (GLA)	ENSP00000502661.1:n.547+901A>G
ENST00000675968.1:n.1509A>G (GLA)
ENST00000676156.1:c.538A>G (GLA)	ENSP00000501730.1:p.Asn180Asp
ENST00000676372.1:c.574A>G (GLA)	ENSP00000502805.1:p.Asn192Asp
ENST00000218516.3:c.574A>G (GLA)	ENSP00000218516.3:p.Asn192Asp
ENST00000409170.3:c.300+5274T>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5274T>C
ENST00000409338.5:c.177+8909T>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8909T>C
ENST00000468823.1:n.123A>G (GLA)
ENST00000480513.5:n.477+901A>G (GLA)
ENST00000486121.5:n.619A>G (GLA)
ENST00000493905.6:c.574A>G (GLA)	ENSP00000476935.1:p.Asn192Asp
NM_000169.2:c.574A>G , LRG_672t1:c.574A>G (GLA)	NP_000160.1:p.Asn192Asp
NM_001199973.1:c.408+5274T>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5274T>C
NM_001199974.1:c.285+8909T>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8909T>C
XR_938397.1:n.602A>G (GLA)
XR_938397.2:n.623A>G (GLA)
NM_001199973.2:c.300+5274T>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5274T>C
NM_001199974.2:c.177+8909T>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8909T>C
NM_000169.3:c.574A>G (GLA) MANE Select	NP_000160.1:p.Asn192Asp
NR_164783.1:n.596A>G (GLA)