Canonical Allele Identifier: CA2670906519
Gene: ENAM HGNC NCBI

Linked Data

gnomAD v4: 4-70628863-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.70628863G>T , CM000666.2:g.70628863G>T GRCh38
NC_000004.11:g.71494580G>T , CM000666.1:g.71494580G>T GRCh37
NG_013024.1:g.5120G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000396073.4:c.-162G>T MANE Select ENSP00000379383.4:n.-162G>T
ENST00000396073.3:c.-162G>T ENSP00000379383.3:n.-162G>T
NM_031889.2:c.-162G>T NP_114095.2:n.-162G>T
XM_006714056.2:c.-638G>T XP_006714119.1:n.-638G>T
XM_006714056.4:c.-638G>T XP_006714119.1:n.-638G>T
NM_031889.3:c.-162G>T MANE Select NP_114095.2:n.-162G>T