Canonical Allele Identifier: CA1063914659
Gene: ENAM HGNC NCBI

Linked Data

dbSNP Id: rs1738239647
gnomAD v3: 4-70628851-C-T
gnomAD v4: 4-70628851-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.70628851C>T , CM000666.2:g.70628851C>T GRCh38
NC_000004.11:g.71494568C>T , CM000666.1:g.71494568C>T GRCh37
NG_013024.1:g.5108C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000396073.4:c.-174C>T MANE Select ENSP00000379383.4:n.-174C>T
ENST00000396073.3:c.-174C>T ENSP00000379383.3:n.-174C>T
NM_031889.2:c.-174C>T NP_114095.2:n.-174C>T
XM_006714056.4:c.-650C>T XP_006714119.1:n.-650C>T
NM_031889.3:c.-174C>T MANE Select NP_114095.2:n.-174C>T
Search 100 bp 5'
Search 100 bp 3'