Canonical Allele Identifier: CA347286612

Gene: NAT8

Linked Data

• MyVariant Identifiers: chr2:g.73868176T>G (hg19) ; chr2:g.73641049T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73641049T>G , CM000664.2:g.73641049T>G	GRCh38
NC_000002.11:g.73868176T>G , CM000664.1:g.73868176T>G	GRCh37
NC_000002.10:g.73721684T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.580A>C MANE Select	ENSP00000272425.3:p.Lys194Gln
ENST00000272425.3:c.580A>C	ENSP00000272425.3:p.Lys194Gln
NM_003960.3:c.580A>C	NP_003951.3:p.Lys194Gln
NM_003960.4:c.580A>C MANE Select	NP_003951.3:p.Lys194Gln