Canonical Allele Identifier: CA4651719
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs750940890
ExAC: 8:18258385 A / G
gnomAD v2: 8-18258385-A-G
gnomAD v4: 8-18400875-A-G
MyVariant Identifiers: chr8:g.18258385A>G (hg19) chr8:g.18400875A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400875A>G , CM000670.2:g.18400875A>G GRCh38
NC_000008.10:g.18258385A>G , CM000670.1:g.18258385A>G GRCh37
NC_000008.9:g.18302665A>G NCBI36
NG_012246.1:g.14631A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.872A>G MANE Select ENSP00000286479.3:p.Ter291Trp
ENST00000286479.3:c.872A>G ENSP00000286479.3:p.Ter291Trp
ENST00000520116.1:c.482A>G ENSP00000428416.1:p.Ter161Trp
NM_000015.2:c.872A>G NP_000006.2:p.Ter291Trp
XM_011544358.1:c.872A>G XP_011542660.1:p.Ter291Trp
XM_017012938.1:c.872A>G XP_016868427.1:p.Ter291Trp
NM_000015.3:c.872A>G MANE Select NP_000006.2:p.Ter291Trp
Search 100 bp 5'
Search 100 bp 3'