Canonical Allele Identifier: CA4651538
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs774237368
ExAC: 8:18257555 C / G
gnomAD v2: 8-18257555-C-G
gnomAD v4: 8-18400045-C-G
MyVariant Identifiers: chr8:g.18257555C>G (hg19) chr8:g.18400045C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400045C>G , CM000670.2:g.18400045C>G GRCh38
NC_000008.10:g.18257555C>G , CM000670.1:g.18257555C>G GRCh37
NC_000008.9:g.18301835C>G NCBI36
NG_012246.1:g.13801C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.42C>G MANE Select ENSP00000286479.3:p.Asn14Lys
ENST00000286479.3:c.42C>G ENSP00000286479.3:p.Asn14Lys
ENST00000520116.1:c.-57-292C>G ENSP00000428416.1:n.-57-292C>G
NM_000015.2:c.42C>G NP_000006.2:p.Asn14Lys
XM_011544358.1:c.42C>G XP_011542660.1:p.Asn14Lys
XM_017012938.1:c.42C>G XP_016868427.1:p.Asn14Lys
NM_000015.3:c.42C>G MANE Select NP_000006.2:p.Asn14Lys
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