Canonical Allele Identifier: CA413922595

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653485G>T (hg19) ; chrX:g.101398497G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398497G>T , CM000685.2:g.101398497G>T	GRCh38
NC_000023.10:g.100653485G>T , CM000685.1:g.100653485G>T	GRCh37
NC_000023.9:g.100540141G>T	NCBI36
NG_007119.1:g.14467C>A , LRG_672:g.14467C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*318C>A (GLA)	ENSP00000501124.2:n.*318C>A
ENST00000674127.2:c.*375C>A (GLA)	ENSP00000501044.2:n.*375C>A
ENST00000710365.1:c.947C>A (GLA)	ENSP00000518234.1:p.Ala316Asp
ENST00000218516.4:c.872C>A (GLA) MANE Select	ENSP00000218516.4:p.Ala291Asp
ENST00000466414.2:n.1008C>A (GLA)
ENST00000468823.2:n.2024C>A (GLA)
ENST00000479445.2:n.1486C>A (GLA)
ENST00000480513.6:c.*180C>A (GLA)	ENSP00000497055.1:n.*180C>A
ENST00000486121.6:c.917C>A (GLA)
ENST00000649178.1:c.995C>A (GLA)	ENSP00000498186.1:p.Ala332Asp
ENST00000674127.1:c.972C>A (GLA)	ENSP00000501044.1:n.972C>A
ENST00000674142.1:n.1176C>A (GLA)
ENST00000674634.2:c.872C>A (GLA)	ENSP00000502629.2:p.Ala291Asp
ENST00000675592.1:c.801+288C>A (GLA)	ENSP00000502239.1:n.801+288C>A
ENST00000675799.1:c.*397C>A (GLA)	ENSP00000502661.1:n.*397C>A
ENST00000675968.1:n.3743C>A (GLA)
ENST00000676156.1:c.836C>A (GLA)	ENSP00000501730.1:p.Ala279Asp
ENST00000676372.1:c.938C>A (GLA)	ENSP00000502805.1:n.938C>A
ENST00000218516.3:c.872C>A (GLA)	ENSP00000218516.3:p.Ala291Asp
ENST00000409170.3:c.300+3040G>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3040G>T
ENST00000409338.5:c.177+6675G>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6675G>T
ENST00000466414.1:n.198C>A (GLA)
ENST00000493905.6:c.*260C>A (GLA)	ENSP00000476935.1:n.*260C>A
NM_000169.2:c.872C>A , LRG_672t1:c.872C>A (GLA)	NP_000160.1:p.Ala291Asp
NM_001199973.1:c.408+3040G>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3040G>T
NM_001199974.1:c.285+6675G>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6675G>T
XR_938397.1:n.957C>A (GLA)
XR_938397.2:n.978C>A (GLA)
NM_001199973.2:c.300+3040G>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3040G>T
NM_001199974.2:c.177+6675G>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6675G>T
NM_000169.3:c.872C>A (GLA) MANE Select	NP_000160.1:p.Ala291Asp
NR_164783.1:n.951C>A (GLA)