Canonical Allele Identifier: CA4651553
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs753310036
ExAC: 8:18257623 T / C
gnomAD v2: 8-18257623-T-C
gnomAD v3: 8-18400113-T-C
gnomAD v4: 8-18400113-T-C
MyVariant Identifiers: chr8:g.18257623T>C (hg19) chr8:g.18400113T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400113T>C , CM000670.2:g.18400113T>C GRCh38
NC_000008.10:g.18257623T>C , CM000670.1:g.18257623T>C GRCh37
NC_000008.9:g.18301903T>C NCBI36
NG_012246.1:g.13869T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.110T>C MANE Select ENSP00000286479.3:p.Phe37Ser
ENST00000286479.3:c.110T>C ENSP00000286479.3:p.Phe37Ser
ENST00000520116.1:c.-57-224T>C ENSP00000428416.1:n.-57-224T>C
NM_000015.2:c.110T>C NP_000006.2:p.Phe37Ser
XM_011544358.1:c.110T>C XP_011542660.1:p.Phe37Ser
XM_017012938.1:c.110T>C XP_016868427.1:p.Phe37Ser
NM_000015.3:c.110T>C MANE Select NP_000006.2:p.Phe37Ser
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