Canonical Allele Identifier: CA1715640
Gene: NAT8 HGNC NCBI

Linked Data

dbSNP Id: rs759908932
ExAC: 2:73868116 G / A
gnomAD v2: 2-73868116-G-A
gnomAD v3: 2-73640989-G-A
gnomAD v4: 2-73640989-G-A
MyVariant Identifiers: chr2:g.73868116G>A (hg19) chr2:g.73640989G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640989G>A , CM000664.2:g.73640989G>A GRCh38
NC_000002.11:g.73868116G>A , CM000664.1:g.73868116G>A GRCh37
NC_000002.10:g.73721624G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.640C>T MANE Select ENSP00000272425.3:p.His214Tyr
ENST00000272425.3:c.640C>T ENSP00000272425.3:p.His214Tyr
NM_003960.3:c.640C>T NP_003951.3:p.His214Tyr
NM_003960.4:c.640C>T MANE Select NP_003951.3:p.His214Tyr
Search 100 bp 5'
Search 100 bp 3'