Canonical Allele Identifier: CA4651660
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs755105691
ExAC: 8:18258124 C / A
gnomAD v2: 8-18258124-C-A
gnomAD v4: 8-18400614-C-A
MyVariant Identifiers: chr8:g.18258124C>A (hg19) chr8:g.18400614C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400614C>A , CM000670.2:g.18400614C>A GRCh38
NC_000008.10:g.18258124C>A , CM000670.1:g.18258124C>A GRCh37
NC_000008.9:g.18302404C>A NCBI36
NG_012246.1:g.14370C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.611C>A MANE Select ENSP00000286479.3:p.Ser204Tyr
ENST00000286479.3:c.611C>A ENSP00000286479.3:p.Ser204Tyr
ENST00000520116.1:c.221C>A ENSP00000428416.1:p.Ser74Tyr
NM_000015.2:c.611C>A NP_000006.2:p.Ser204Tyr
XM_011544358.1:c.611C>A XP_011542660.1:p.Ser204Tyr
XM_017012938.1:c.611C>A XP_016868427.1:p.Ser204Tyr
NM_000015.3:c.611C>A MANE Select NP_000006.2:p.Ser204Tyr
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