Canonical Allele Identifier: CA347285975

Gene: NAT8

Linked Data

• MyVariant Identifiers: chr2:g.73868077G>C (hg19) ; chr2:g.73640950G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73640950G>C , CM000664.2:g.73640950G>C	GRCh38
NC_000002.11:g.73868077G>C , CM000664.1:g.73868077G>C	GRCh37
NC_000002.10:g.73721585G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.679C>G MANE Select	ENSP00000272425.3:p.Leu227Val
ENST00000272425.3:c.679C>G	ENSP00000272425.3:p.Leu227Val
NM_003960.3:c.679C>G	NP_003951.3:p.Leu227Val
NM_003960.4:c.679C>G MANE Select	NP_003951.3:p.Leu227Val