Canonical Allele Identifier: CA1715644
Gene: NAT8 HGNC NCBI

Linked Data

dbSNP Id: rs147340037
ExAC: 2:73868134 C / G
gnomAD v2: 2-73868134-C-G
gnomAD v3: 2-73641007-C-G
gnomAD v4: 2-73641007-C-G
MyVariant Identifiers: chr2:g.73868134C>G (hg19) chr2:g.73641007C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641007C>G , CM000664.2:g.73641007C>G GRCh38
NC_000002.11:g.73868134C>G , CM000664.1:g.73868134C>G GRCh37
NC_000002.10:g.73721642C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.622G>C MANE Select ENSP00000272425.3:p.Val208Leu
ENST00000272425.3:c.622G>C ENSP00000272425.3:p.Val208Leu
NM_003960.3:c.622G>C NP_003951.3:p.Val208Leu
NM_003960.4:c.622G>C MANE Select NP_003951.3:p.Val208Leu
Search 100 bp 5'
Search 100 bp 3'