Canonical Allele Identifier: CA6322039
Community Standard Title: NM_002855.5(NECTIN1):c.635G>A (p.Arg212His)
Gene: NECTIN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119677653C>T , CM000673.2:g.119677653C>T GRCh38
NC_000011.9:g.119548363C>T , CM000673.1:g.119548363C>T GRCh37
NC_000011.8:g.119053573C>T NCBI36
NG_013083.1:g.56073G>A
NG_013083.2:g.56073G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002855.5:c.635G>A MANE Select NP_002846.3:p.Arg212His
ENST00000264025.8:c.635G>A MANE Select ENSP00000264025.3:p.Arg212His
NM_002855.4:c.635G>A NP_002846.3:p.Arg212His
NM_203285.1:c.635G>A NP_976030.1:p.Arg212His
NM_203285.2:c.635G>A NP_976030.1:p.Arg212His
NM_203286.1:c.635G>A NP_976031.1:p.Arg212His
NM_203286.2:c.635G>A NP_976031.1:p.Arg212His
ENST00000264025.7:c.635G>A ENSP00000264025.3:p.Arg212His
ENST00000340882.2:c.635G>A ENSP00000345289.2:p.Arg212His
ENST00000341398.6:c.635G>A ENSP00000344974.2:p.Arg212His
ENST00000524510.1:n.609G>A
ENST00000531468.2:c.635G>A ENSP00000513010.1:p.Arg212His