Canonical Allele Identifier: CA173519906
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs774706631
gnomAD v2: 8-18257775-A-C
gnomAD v3: 8-18400265-A-C
gnomAD v4: 8-18400265-A-C
MyVariant Identifiers: chr8:g.18257775A>C (hg19) chr8:g.18400265A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400265A>C , CM000670.2:g.18400265A>C GRCh38
NC_000008.10:g.18257775A>C , CM000670.1:g.18257775A>C GRCh37
NC_000008.9:g.18302055A>C NCBI36
NG_012246.1:g.14021A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.262A>C MANE Select ENSP00000286479.3:p.Met88Leu
ENST00000286479.3:c.262A>C ENSP00000286479.3:p.Met88Leu
ENST00000520116.1:c.-57-72A>C ENSP00000428416.1:n.-57-72A>C
NM_000015.2:c.262A>C NP_000006.2:p.Met88Leu
XM_011544358.1:c.262A>C XP_011542660.1:p.Met88Leu
XM_017012938.1:c.262A>C XP_016868427.1:p.Met88Leu
NM_000015.3:c.262A>C MANE Select NP_000006.2:p.Met88Leu
Search 100 bp 5'
Search 100 bp 3'