Canonical Allele Identifier: CA370636312
Gene: NAT2 HGNC NCBI

Linked Data

gnomAD v4: 8-18400640-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400640C>G , CM000670.2:g.18400640C>G GRCh38
NC_000008.10:g.18258150C>G , CM000670.1:g.18258150C>G GRCh37
NC_000008.9:g.18302430C>G NCBI36
NG_012246.1:g.14396C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.637C>G MANE Select ENSP00000286479.3:p.Pro213Ala
ENST00000286479.3:c.637C>G ENSP00000286479.3:p.Pro213Ala
ENST00000520116.1:c.247C>G ENSP00000428416.1:p.Pro83Ala
NM_000015.2:c.637C>G NP_000006.2:p.Pro213Ala
XM_011544358.1:c.637C>G XP_011542660.1:p.Pro213Ala
XM_017012938.1:c.637C>G XP_016868427.1:p.Pro213Ala
NM_000015.3:c.637C>G MANE Select NP_000006.2:p.Pro213Ala