Canonical Allele Identifier: CA357140379
Gene: ENAM HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.71508422G>T (hg19) chr4:g.70642705G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.70642705G>T , CM000666.2:g.70642705G>T GRCh38
NC_000004.11:g.71508422G>T , CM000666.1:g.71508422G>T GRCh37
NC_000004.10:g.71727286G>T NCBI36
NG_013024.1:g.18962G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000396073.4:c.1279G>T MANE Select ENSP00000379383.4:p.Val427Phe
ENST00000396073.3:c.1279G>T ENSP00000379383.3:p.Val427Phe
ENST00000472903.5:n.99+4862G>T
NM_031889.2:c.1279G>T NP_114095.2:p.Val427Phe
XM_006714056.2:c.1279G>T XP_006714119.1:p.Val427Phe
XM_006714056.4:c.1279G>T XP_006714119.1:p.Val427Phe
NM_001368133.1:c.625G>T NP_001355062.1:p.Val209Phe
NM_031889.3:c.1279G>T MANE Select NP_114095.2:p.Val427Phe
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