Canonical Allele Identifier: CA357140369
Gene: ENAM HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000396073.4:c.1277C>G MANE Select ENSP00000379383.4:p.Pro426Arg
ENST00000396073.3:c.1277C>G ENSP00000379383.3:p.Pro426Arg
ENST00000472903.5:n.99+4860C>G
NM_031889.2:c.1277C>G NP_114095.2:p.Pro426Arg
XM_006714056.2:c.1277C>G XP_006714119.1:p.Pro426Arg
XM_006714056.4:c.1277C>G XP_006714119.1:p.Pro426Arg
NM_001368133.1:c.623C>G NP_001355062.1:p.Pro208Arg
NM_031889.3:c.1277C>G MANE Select NP_114095.2:p.Pro426Arg