Canonical Allele Identifier: CA383281843
Gene: NECTIN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119677635T>A , CM000673.2:g.119677635T>A GRCh38
NC_000011.9:g.119548345T>A , CM000673.1:g.119548345T>A GRCh37
NC_000011.8:g.119053555T>A NCBI36
NG_013083.1:g.56091A>T
NG_013083.2:g.56091A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000531468.2:c.653A>T ENSP00000513010.1:p.Glu218Val
ENST00000264025.8:c.653A>T MANE Select ENSP00000264025.3:p.Glu218Val
ENST00000264025.7:c.653A>T ENSP00000264025.3:p.Glu218Val
ENST00000340882.2:c.653A>T ENSP00000345289.2:p.Glu218Val
ENST00000341398.6:c.653A>T ENSP00000344974.2:p.Glu218Val
ENST00000524510.1:n.627A>T
NM_002855.4:c.653A>T NP_002846.3:p.Glu218Val
NM_203285.1:c.653A>T NP_976030.1:p.Glu218Val
NM_203286.1:c.653A>T NP_976031.1:p.Glu218Val
NM_002855.5:c.653A>T MANE Select NP_002846.3:p.Glu218Val
NM_203285.2:c.653A>T NP_976030.1:p.Glu218Val
NM_203286.2:c.653A>T NP_976031.1:p.Glu218Val