Canonical Allele Identifier: CA370636028
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1315180839
gnomAD v2: 8-18258017-G-C
gnomAD v3: 8-18400507-G-C
gnomAD v4: 8-18400507-G-C
MyVariant Identifiers: chr8:g.18258017G>C (hg19) chr8:g.18400507G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400507G>C , CM000670.2:g.18400507G>C GRCh38
NC_000008.10:g.18258017G>C , CM000670.1:g.18258017G>C GRCh37
NC_000008.9:g.18302297G>C NCBI36
NG_012246.1:g.14263G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.504G>C MANE Select ENSP00000286479.3:p.Gln168His
ENST00000286479.3:c.504G>C ENSP00000286479.3:p.Gln168His
ENST00000520116.1:c.114G>C ENSP00000428416.1:p.Gln38His
NM_000015.2:c.504G>C NP_000006.2:p.Gln168His
XM_011544358.1:c.504G>C XP_011542660.1:p.Gln168His
XM_017012938.1:c.504G>C XP_016868427.1:p.Gln168His
NM_000015.3:c.504G>C MANE Select NP_000006.2:p.Gln168His
Search 100 bp 5'
Search 100 bp 3'