Canonical Allele Identifier: CA552275451
Gene: ENAM HGNC NCBI

Linked Data

dbSNP Id: rs1334477571
gnomAD v2: 4-71494645-T-A
gnomAD v3: 4-70628928-T-A
gnomAD v4: 4-70628928-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.70628928T>A , CM000666.2:g.70628928T>A GRCh38
NC_000004.11:g.71494645T>A , CM000666.1:g.71494645T>A GRCh37
NG_013024.1:g.5185T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000396073.4:c.-97T>A MANE Select ENSP00000379383.4:n.-97T>A
ENST00000396073.3:c.-97T>A ENSP00000379383.3:n.-97T>A
NM_031889.2:c.-97T>A NP_114095.2:n.-97T>A
XM_006714056.2:c.-573T>A XP_006714119.1:n.-573T>A
XM_006714056.4:c.-573T>A XP_006714119.1:n.-573T>A
NM_031889.3:c.-97T>A MANE Select NP_114095.2:n.-97T>A