Canonical Allele Identifier: CA392106625

Gene: EPB42

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43203127G>C , CM000677.2:g.43203127G>C	GRCh38
NC_000015.9:g.43495325G>C , CM000677.1:g.43495325G>C	GRCh37
NC_000015.8:g.41282617G>C	NCBI36
NG_011505.1:g.22999C>G
NG_011505.2:g.27730C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000441366.7:c.1767C>G MANE Select	ENSP00000396616.2:p.His589Gln
ENST00000567019.2:n.1273C>G
ENST00000648595.1:c.1857C>G	ENSP00000497777.1:p.His619Gln
ENST00000300215.7:c.1857C>G	ENSP00000300215.3:p.His619Gln
ENST00000441366.6:c.1767C>G	ENSP00000396616.2:p.His589Gln
ENST00000540029.5:c.1533C>G	ENSP00000444699.1:p.His511Gln
ENST00000563128.5:n.301C>G
ENST00000567019.1:n.1282C>G
ENST00000568508.5:c.1478-1150C>G	ENSP00000457140.1:n.1478-1150C>G
ENST00000622454.4:c.1551C>G	ENSP00000481226.1:p.His517Gln
NM_000119.2:c.1857C>G	NP_000110.2:p.His619Gln
NM_001114134.1:c.1767C>G	NP_001107606.1:p.His589Gln
XM_005254225.1:c.1662C>G	XP_005254282.1:p.His554Gln
XM_011521349.1:c.1857C>G	XP_011519651.1:p.His619Gln
XM_011521350.1:c.1857C>G	XP_011519652.1:p.His619Gln
XM_011521351.1:c.1857C>G	XP_011519653.1:p.His619Gln
XM_011521352.1:c.1821C>G	XP_011519654.1:p.His607Gln
XM_011521353.1:c.1752C>G	XP_011519655.1:p.His584Gln
XM_011521354.1:c.1302C>G	XP_011519656.1:p.His434Gln
NM_000119.3:c.1857C>G	NP_000110.2:p.His619Gln
XM_011521349.2:c.1857C>G	XP_011519651.1:p.His619Gln
XM_011521350.2:c.1857C>G	XP_011519652.1:p.His619Gln
XM_011521351.2:c.1857C>G	XP_011519653.1:p.His619Gln
XM_011521352.2:c.1821C>G	XP_011519654.1:p.His607Gln
XM_011521353.2:c.1752C>G	XP_011519655.1:p.His584Gln
XM_011521354.2:c.1302C>G	XP_011519656.1:p.His434Gln
NM_001114134.2:c.1767C>G MANE Select	NP_001107606.1:p.His589Gln