Canonical Allele Identifier: CA357140396
Gene: ENAM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.70642709T>A , CM000666.2:g.70642709T>A GRCh38
NC_000004.11:g.71508426T>A , CM000666.1:g.71508426T>A GRCh37
NC_000004.10:g.71727290T>A NCBI36
NG_013024.1:g.18966T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000396073.4:c.1283T>A MANE Select ENSP00000379383.4:p.Val428Asp
ENST00000396073.3:c.1283T>A ENSP00000379383.3:p.Val428Asp
ENST00000472903.5:n.99+4866T>A
NM_031889.2:c.1283T>A NP_114095.2:p.Val428Asp
XM_006714056.2:c.1283T>A XP_006714119.1:p.Val428Asp
XM_006714056.4:c.1283T>A XP_006714119.1:p.Val428Asp
NM_001368133.1:c.629T>A NP_001355062.1:p.Val210Asp
NM_031889.3:c.1283T>A MANE Select NP_114095.2:p.Val428Asp