Canonical Allele Identifier: CA7520647

Gene: EPB42

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43215269C>A , CM000677.2:g.43215269C>A	GRCh38
NC_000015.9:g.43507467C>A , CM000677.1:g.43507467C>A	GRCh37
NC_000015.8:g.41294759C>A	NCBI36
NG_011505.1:g.10857G>T
NG_011505.2:g.15588G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001114134.2:c.256G>T MANE Select	NP_001107606.1:p.Asp86Tyr
ENST00000441366.7:c.256G>T MANE Select	ENSP00000396616.2:p.Asp86Tyr
NM_000119.2:c.346G>T	NP_000110.2:p.Asp116Tyr
NM_000119.3:c.346G>T	NP_000110.2:p.Asp116Tyr
NM_001114134.1:c.256G>T	NP_001107606.1:p.Asp86Tyr
ENST00000300215.7:c.346G>T	ENSP00000300215.3:p.Asp116Tyr
ENST00000441366.6:c.256G>T	ENSP00000396616.2:p.Asp86Tyr
ENST00000540029.5:c.196+999G>T	ENSP00000444699.1:n.196+999G>T
ENST00000568508.5:c.115G>T	ENSP00000457140.1:p.Asp39Tyr
ENST00000622454.4:c.256G>T	ENSP00000481226.1:p.Asp86Tyr
ENST00000648595.1:c.346G>T	ENSP00000497777.1:p.Asp116Tyr
XM_005254225.1:c.256G>T	XP_005254282.1:p.Asp86Tyr
XM_011521349.1:c.346G>T	XP_011519651.1:p.Asp116Tyr
XM_011521349.2:c.346G>T	XP_011519651.1:p.Asp116Tyr
XM_011521350.1:c.346G>T	XP_011519652.1:p.Asp116Tyr
XM_011521350.2:c.346G>T	XP_011519652.1:p.Asp116Tyr
XM_011521351.1:c.346G>T	XP_011519653.1:p.Asp116Tyr
XM_011521351.2:c.346G>T	XP_011519653.1:p.Asp116Tyr
XM_011521352.1:c.346G>T	XP_011519654.1:p.Asp116Tyr
XM_011521352.2:c.346G>T	XP_011519654.1:p.Asp116Tyr
XM_011521353.1:c.346G>T	XP_011519655.1:p.Asp116Tyr
XM_011521353.2:c.346G>T	XP_011519655.1:p.Asp116Tyr