Canonical Allele Identifier: CA370636732
Gene: NAT2 HGNC NCBI

Linked Data

gnomAD v4: 8-18400839-T-C
MyVariant Identifiers: chr8:g.18258349T>C (hg19) chr8:g.18400839T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400839T>C , CM000670.2:g.18400839T>C GRCh38
NC_000008.10:g.18258349T>C , CM000670.1:g.18258349T>C GRCh37
NC_000008.9:g.18302629T>C NCBI36
NG_012246.1:g.14595T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.836T>C MANE Select ENSP00000286479.3:p.Leu279Pro
ENST00000286479.3:c.836T>C ENSP00000286479.3:p.Leu279Pro
ENST00000520116.1:c.446T>C ENSP00000428416.1:p.Leu149Pro
NM_000015.2:c.836T>C NP_000006.2:p.Leu279Pro
XM_011544358.1:c.836T>C XP_011542660.1:p.Leu279Pro
XM_017012938.1:c.836T>C XP_016868427.1:p.Leu279Pro
NM_000015.3:c.836T>C MANE Select NP_000006.2:p.Leu279Pro
Search 100 bp 5'
Search 100 bp 3'