Canonical Allele Identifier: CA1715649
Gene: NAT8 HGNC NCBI

Linked Data

dbSNP Id: rs753845906
ExAC: 2:73868147 C / G
gnomAD v2: 2-73868147-C-G
gnomAD v3: 2-73641020-C-G
gnomAD v4: 2-73641020-C-G
MyVariant Identifiers: chr2:g.73868147C>G (hg19) chr2:g.73641020C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641020C>G , CM000664.2:g.73641020C>G GRCh38
NC_000002.11:g.73868147C>G , CM000664.1:g.73868147C>G GRCh37
NC_000002.10:g.73721655C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.609G>C MANE Select ENSP00000272425.3:p.Val203=
ENST00000272425.3:c.609G>C ENSP00000272425.3:p.Val203=
NM_003960.3:c.609G>C NP_003951.3:p.Val203=
NM_003960.4:c.609G>C MANE Select NP_003951.3:p.Val203=
Search 100 bp 5'
Search 100 bp 3'