Canonical Allele Identifier: CA357140367
Gene: ENAM HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.71508420C>A (hg19) chr4:g.70642703C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.70642703C>A , CM000666.2:g.70642703C>A GRCh38
NC_000004.11:g.71508420C>A , CM000666.1:g.71508420C>A GRCh37
NC_000004.10:g.71727284C>A NCBI36
NG_013024.1:g.18960C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000396073.4:c.1277C>A MANE Select ENSP00000379383.4:p.Pro426His
ENST00000396073.3:c.1277C>A ENSP00000379383.3:p.Pro426His
ENST00000472903.5:n.99+4860C>A
NM_031889.2:c.1277C>A NP_114095.2:p.Pro426His
XM_006714056.2:c.1277C>A XP_006714119.1:p.Pro426His
XM_006714056.4:c.1277C>A XP_006714119.1:p.Pro426His
NM_001368133.1:c.623C>A NP_001355062.1:p.Pro208His
NM_031889.3:c.1277C>A MANE Select NP_114095.2:p.Pro426His
Search 100 bp 5'
Search 100 bp 3'