Canonical Allele Identifier: CA413927115

Gene: GLA RPL36A-HNRNPH2

Linked Data

• gnomAD v4: X-101400673-A-G
• MyVariant Identifiers: chrX:g.100655661A>G (hg19) ; chrX:g.101400673A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400673A>G , CM000685.2:g.101400673A>G	GRCh38
NC_000023.10:g.100655661A>G , CM000685.1:g.100655661A>G	GRCh37
NC_000023.9:g.100542317A>G	NCBI36
NG_007119.1:g.12291T>C , LRG_672:g.12291T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*78T>C (GLA)	ENSP00000501124.2:n.*78T>C
ENST00000674127.2:c.*78T>C (GLA)	ENSP00000501044.2:n.*78T>C
ENST00000710365.1:c.707T>C (GLA)	ENSP00000518234.1:p.Phe236Ser
ENST00000218516.4:c.632T>C (GLA) MANE Select	ENSP00000218516.4:p.Phe211Ser
ENST00000466414.2:n.551T>C (GLA)
ENST00000468823.2:n.1567T>C (GLA)
ENST00000479445.2:n.1029T>C (GLA)
ENST00000480513.6:c.547+959T>C (GLA)	ENSP00000497055.1:n.547+959T>C
ENST00000486121.6:c.677T>C (GLA)
ENST00000649178.1:c.755T>C (GLA)	ENSP00000498186.1:p.Phe252Ser
ENST00000674127.1:c.675T>C (GLA)	ENSP00000501044.1:n.675T>C
ENST00000674142.1:n.719T>C (GLA)
ENST00000674634.2:c.632T>C (GLA)	ENSP00000502629.2:p.Phe211Ser
ENST00000675592.1:c.632T>C (GLA)	ENSP00000502239.1:p.Phe211Ser
ENST00000675799.1:c.547+959T>C (GLA)	ENSP00000502661.1:n.547+959T>C
ENST00000675968.1:n.1567T>C (GLA)
ENST00000676156.1:c.596T>C (GLA)	ENSP00000501730.1:p.Phe199Ser
ENST00000676372.1:c.632T>C (GLA)	ENSP00000502805.1:p.Phe211Ser
ENST00000218516.3:c.632T>C (GLA)	ENSP00000218516.3:p.Phe211Ser
ENST00000409170.3:c.300+5216A>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5216A>G
ENST00000409338.5:c.177+8851A>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8851A>G
ENST00000468823.1:n.181T>C (GLA)
ENST00000480513.5:n.477+959T>C (GLA)
ENST00000486121.5:n.677T>C (GLA)
ENST00000493905.6:c.632T>C (GLA)	ENSP00000476935.1:p.Phe211Ser
NM_000169.2:c.632T>C , LRG_672t1:c.632T>C (GLA)	NP_000160.1:p.Phe211Ser
NM_001199973.1:c.408+5216A>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5216A>G
NM_001199974.1:c.285+8851A>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8851A>G
XR_938397.1:n.660T>C (GLA)
XR_938397.2:n.681T>C (GLA)
NM_001199973.2:c.300+5216A>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5216A>G
NM_001199974.2:c.177+8851A>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8851A>G
NM_000169.3:c.632T>C (GLA) MANE Select	NP_000160.1:p.Phe211Ser
NR_164783.1:n.654T>C (GLA)