Canonical Allele Identifier: CA413922475

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs1928168577
• gnomAD v3: X-101398484-G-T
• gnomAD v4: X-101398484-G-T
• MyVariant Identifiers: chrX:g.100653472G>T (hg19) ; chrX:g.101398484G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398484G>T , CM000685.2:g.101398484G>T	GRCh38
NC_000023.10:g.100653472G>T , CM000685.1:g.100653472G>T	GRCh37
NC_000023.9:g.100540128G>T	NCBI36
NG_007119.1:g.14480C>A , LRG_672:g.14480C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*331C>A (GLA)	ENSP00000501124.2:n.*331C>A
ENST00000674127.2:c.*388C>A (GLA)	ENSP00000501044.2:n.*388C>A
ENST00000710365.1:c.960C>A (GLA)	ENSP00000518234.1:p.Phe320Leu
ENST00000218516.4:c.885C>A (GLA) MANE Select	ENSP00000218516.4:p.Phe295Leu
ENST00000466414.2:n.1021C>A (GLA)
ENST00000468823.2:n.2037C>A (GLA)
ENST00000479445.2:n.1499C>A (GLA)
ENST00000480513.6:c.*193C>A (GLA)	ENSP00000497055.1:n.*193C>A
ENST00000486121.6:c.930C>A (GLA)
ENST00000649178.1:c.1008C>A (GLA)	ENSP00000498186.1:p.Phe336Leu
ENST00000674127.1:c.985C>A (GLA)	ENSP00000501044.1:n.985C>A
ENST00000674142.1:n.1189C>A (GLA)
ENST00000674634.2:c.885C>A (GLA)	ENSP00000502629.2:p.Phe295Leu
ENST00000675592.1:c.801+301C>A (GLA)	ENSP00000502239.1:n.801+301C>A
ENST00000675799.1:c.*410C>A (GLA)	ENSP00000502661.1:n.*410C>A
ENST00000675968.1:n.3756C>A (GLA)
ENST00000676156.1:c.849C>A (GLA)	ENSP00000501730.1:p.Phe283Leu
ENST00000676372.1:c.951C>A (GLA)	ENSP00000502805.1:n.951C>A
ENST00000218516.3:c.885C>A (GLA)	ENSP00000218516.3:p.Phe295Leu
ENST00000409170.3:c.300+3027G>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3027G>T
ENST00000409338.5:c.177+6662G>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6662G>T
ENST00000466414.1:n.211C>A (GLA)
ENST00000493905.6:c.*273C>A (GLA)	ENSP00000476935.1:n.*273C>A
NM_000169.2:c.885C>A , LRG_672t1:c.885C>A (GLA)	NP_000160.1:p.Phe295Leu
NM_001199973.1:c.408+3027G>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3027G>T
NM_001199974.1:c.285+6662G>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6662G>T
XR_938397.1:n.970C>A (GLA)
XR_938397.2:n.991C>A (GLA)
NM_001199973.2:c.300+3027G>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3027G>T
NM_001199974.2:c.177+6662G>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6662G>T
NM_000169.3:c.885C>A (GLA) MANE Select	NP_000160.1:p.Phe295Leu
NR_164783.1:n.964C>A (GLA)