Canonical Allele Identifier: CA50370945
Gene: NAT8 HGNC NCBI

Linked Data

dbSNP Id: rs757407548
MyVariant Identifiers: chr2:g.73868142G>A (hg19) chr2:g.73641015G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641015G>A , CM000664.2:g.73641015G>A GRCh38
NC_000002.11:g.73868142G>A , CM000664.1:g.73868142G>A GRCh37
NC_000002.10:g.73721650G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.614C>T MANE Select ENSP00000272425.3:p.Ala205Val
ENST00000272425.3:c.614C>T ENSP00000272425.3:p.Ala205Val
NM_003960.3:c.614C>T NP_003951.3:p.Ala205Val
NM_003960.4:c.614C>T MANE Select NP_003951.3:p.Ala205Val
Search 100 bp 5'
Search 100 bp 3'