Canonical Allele Identifier: CA370636447
Gene: NAT2 HGNC NCBI

Linked Data

gnomAD v4: 8-18400705-G-C
MyVariant Identifiers: chr8:g.18258215G>C (hg19) chr8:g.18400705G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400705G>C , CM000670.2:g.18400705G>C GRCh38
NC_000008.10:g.18258215G>C , CM000670.1:g.18258215G>C GRCh37
NC_000008.9:g.18302495G>C NCBI36
NG_012246.1:g.14461G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.702G>C MANE Select ENSP00000286479.3:p.Leu234Phe
ENST00000286479.3:c.702G>C ENSP00000286479.3:p.Leu234Phe
ENST00000520116.1:c.312G>C ENSP00000428416.1:p.Leu104Phe
NM_000015.2:c.702G>C NP_000006.2:p.Leu234Phe
XM_011544358.1:c.702G>C XP_011542660.1:p.Leu234Phe
XM_017012938.1:c.702G>C XP_016868427.1:p.Leu234Phe
NM_000015.3:c.702G>C MANE Select NP_000006.2:p.Leu234Phe
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