Canonical Allele Identifier: CA797999048
Gene: ENAM HGNC NCBI

Linked Data

dbSNP Id: rs1176149761
gnomAD v3: 4-70628937-A-C
gnomAD v4: 4-70628937-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.70628937A>C , CM000666.2:g.70628937A>C GRCh38
NC_000004.11:g.71494654A>C , CM000666.1:g.71494654A>C GRCh37
NG_013024.1:g.5194A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000396073.4:c.-88A>C MANE Select ENSP00000379383.4:n.-88A>C
ENST00000396073.3:c.-88A>C ENSP00000379383.3:n.-88A>C
NM_031889.2:c.-88A>C NP_114095.2:n.-88A>C
XM_006714056.2:c.-564A>C XP_006714119.1:n.-564A>C
XM_006714056.4:c.-564A>C XP_006714119.1:n.-564A>C
NM_031889.3:c.-88A>C MANE Select NP_114095.2:n.-88A>C