Canonical Allele Identifier: CA4651683
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs757793253
gnomAD v2: 8-18258225-A-C
gnomAD v4: 8-18400715-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400715A>C , CM000670.2:g.18400715A>C GRCh38
NC_000008.10:g.18258225A>C , CM000670.1:g.18258225A>C GRCh37
NC_000008.9:g.18302505A>C NCBI36
NG_012246.1:g.14471A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.712A>C MANE Select ENSP00000286479.3:p.Ile238Leu
ENST00000286479.3:c.712A>C ENSP00000286479.3:p.Ile238Leu
ENST00000520116.1:c.322A>C ENSP00000428416.1:p.Ile108Leu
NM_000015.2:c.712A>C NP_000006.2:p.Ile238Leu
XM_011544358.1:c.712A>C XP_011542660.1:p.Ile238Leu
XM_017012938.1:c.712A>C XP_016868427.1:p.Ile238Leu
NM_000015.3:c.712A>C MANE Select NP_000006.2:p.Ile238Leu