Canonical Allele Identifier: CA4651675
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs150329557
gnomAD v2: 8-18258195-C-T
gnomAD v3: 8-18400685-C-T
gnomAD v4: 8-18400685-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400685C>T , CM000670.2:g.18400685C>T GRCh38
NC_000008.10:g.18258195C>T , CM000670.1:g.18258195C>T GRCh37
NC_000008.9:g.18302475C>T NCBI36
NG_012246.1:g.14441C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.682C>T MANE Select ENSP00000286479.3:p.Pro228Ser
ENST00000286479.3:c.682C>T ENSP00000286479.3:p.Pro228Ser
ENST00000520116.1:c.292C>T ENSP00000428416.1:p.Pro98Ser
NM_000015.2:c.682C>T NP_000006.2:p.Pro228Ser
XM_011544358.1:c.682C>T XP_011542660.1:p.Pro228Ser
XM_017012938.1:c.682C>T XP_016868427.1:p.Pro228Ser
NM_000015.3:c.682C>T MANE Select NP_000006.2:p.Pro228Ser