Canonical Allele Identifier: CA347286517
Gene: NAT8 HGNC NCBI

Linked Data

gnomAD v4: 2-73641037-G-A
MyVariant Identifiers: chr2:g.73868164G>A (hg19) chr2:g.73641037G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641037G>A , CM000664.2:g.73641037G>A GRCh38
NC_000002.11:g.73868164G>A , CM000664.1:g.73868164G>A GRCh37
NC_000002.10:g.73721672G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.592C>T MANE Select ENSP00000272425.3:p.Gln198Ter
ENST00000272425.3:c.592C>T ENSP00000272425.3:p.Gln198Ter
NM_003960.3:c.592C>T NP_003951.3:p.Gln198Ter
NM_003960.4:c.592C>T MANE Select NP_003951.3:p.Gln198Ter
Search 100 bp 5'
Search 100 bp 3'