Canonical Allele Identifier: CA6267429

Gene: EXPH5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108510541C>T , CM000673.2:g.108510541C>T	GRCh38
NC_000011.9:g.108381268C>T , CM000673.1:g.108381268C>T	GRCh37
NC_000011.8:g.107886478C>T	NCBI36
NG_042852.1:g.88198G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015065.3:c.4966G>A MANE Select	NP_055880.2:p.Glu1656Lys
ENST00000265843.9:c.4966G>A MANE Select	ENSP00000265843.4:p.Glu1656Lys
NM_001144763.1:c.4738G>A	NP_001138235.1:p.Glu1580Lys
NM_001144763.2:c.4738G>A	NP_001138235.1:p.Glu1580Lys
NM_001144764.1:c.4498G>A	NP_001138236.1:p.Glu1500Lys
NM_001144764.2:c.4498G>A	NP_001138236.1:p.Glu1500Lys
NM_001144765.1:c.4402G>A	NP_001138237.1:p.Glu1468Lys
NM_001144765.2:c.4402G>A	NP_001138237.1:p.Glu1468Lys
NM_001308019.1:c.4945G>A	NP_001294948.1:p.Glu1649Lys
NM_001308019.2:c.4945G>A	NP_001294948.1:p.Glu1649Lys
NM_015065.2:c.4966G>A	NP_055880.2:p.Glu1656Lys
ENST00000265843.8:c.4966G>A	ENSP00000265843.4:p.Glu1656Lys
ENST00000525344.5:c.4945G>A	ENSP00000432546.1:p.Glu1649Lys
ENST00000526312.5:c.4738G>A	ENSP00000432683.1:p.Glu1580Lys
XM_011542696.1:c.4738G>A	XP_011540998.1:p.Glu1580Lys
XM_011542696.2:c.4738G>A	XP_011540998.1:p.Glu1580Lys
XM_011542698.1:c.4738G>A	XP_011541000.1:p.Glu1580Lys
XM_011542698.2:c.4738G>A	XP_011541000.1:p.Glu1580Lys
XM_011542699.1:c.4402G>A	XP_011541001.1:p.Glu1468Lys
XM_011542700.1:c.4738G>A	XP_011541002.1:p.Glu1580Lys
XM_011542700.2:c.4738G>A	XP_011541002.1:p.Glu1580Lys
XM_017017397.1:c.4738G>A	XP_016872886.1:p.Glu1580Lys
XM_017017398.1:c.4735G>A	XP_016872887.1:p.Glu1579Lys
XM_017017399.1:c.4738G>A	XP_016872888.1:p.Glu1580Lys
XM_017017400.1:c.4738G>A	XP_016872889.1:p.Glu1580Lys
XM_017017401.1:c.4735G>A	XP_016872890.1:p.Glu1579Lys
XM_017017402.1:c.4498G>A	XP_016872891.1:p.Glu1500Lys
XM_017017403.1:c.4495G>A	XP_016872892.1:p.Glu1499Lys
XM_017017404.1:c.4402G>A	XP_016872893.1:p.Glu1468Lys
XR_246464.2:n.590-4770C>T