Canonical Allele Identifier: CA1715623

Gene: NAT8

Linked Data

• dbSNP Id: rs1062875
• ExAC: 2:73868070 G / T
• gnomAD v2: 2-73868070-G-T
• gnomAD v3: 2-73640943-G-T
• gnomAD v4: 2-73640943-G-T
• MyVariant Identifiers: chr2:g.73868070G>T (hg19) ; chr2:g.73640943G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73640943G>T , CM000664.2:g.73640943G>T	GRCh38
NC_000002.11:g.73868070G>T , CM000664.1:g.73868070G>T	GRCh37
NC_000002.10:g.73721578G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.*2C>A MANE Select	ENSP00000272425.3:n.*2C>A
ENST00000272425.3:c.*2C>A	ENSP00000272425.3:n.*2C>A
NM_003960.3:c.*2C>A	NP_003951.3:n.*2C>A
NM_003960.4:c.*2C>A MANE Select	NP_003951.3:n.*2C>A