Canonical Allele Identifier: CA370635614
Gene: NAT2 HGNC NCBI

Linked Data

gnomAD v4: 8-18400316-A-C
MyVariant Identifiers: chr8:g.18257826A>C (hg19) chr8:g.18400316A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400316A>C , CM000670.2:g.18400316A>C GRCh38
NC_000008.10:g.18257826A>C , CM000670.1:g.18257826A>C GRCh37
NC_000008.9:g.18302106A>C NCBI36
NG_012246.1:g.14072A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.313A>C MANE Select ENSP00000286479.3:p.Met105Leu
ENST00000286479.3:c.313A>C ENSP00000286479.3:p.Met105Leu
ENST00000520116.1:c.-57-21A>C ENSP00000428416.1:n.-57-21A>C
NM_000015.2:c.313A>C NP_000006.2:p.Met105Leu
XM_011544358.1:c.313A>C XP_011542660.1:p.Met105Leu
XM_017012938.1:c.313A>C XP_016868427.1:p.Met105Leu
NM_000015.3:c.313A>C MANE Select NP_000006.2:p.Met105Leu
Search 100 bp 5'
Search 100 bp 3'