Canonical Allele Identifier: CA4651541
Gene: NAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3176386
ClinVar RCV Id: RCV004472262
dbSNP Id: rs532310930
ExAC: 8:18257571 G / T
gnomAD v2: 8-18257571-G-T
gnomAD v3: 8-18400061-G-T
gnomAD v4: 8-18400061-G-T
MyVariant Identifiers: chr8:g.18257571G>T (hg19) chr8:g.18400061G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400061G>T , CM000670.2:g.18400061G>T GRCh38
NC_000008.10:g.18257571G>T , CM000670.1:g.18257571G>T GRCh37
NC_000008.9:g.18301851G>T NCBI36
NG_012246.1:g.13817G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.58G>T MANE Select ENSP00000286479.3:p.Asp20Tyr
ENST00000286479.3:c.58G>T ENSP00000286479.3:p.Asp20Tyr
ENST00000520116.1:c.-57-276G>T ENSP00000428416.1:n.-57-276G>T
NM_000015.2:c.58G>T NP_000006.2:p.Asp20Tyr
XM_011544358.1:c.58G>T XP_011542660.1:p.Asp20Tyr
XM_017012938.1:c.58G>T XP_016868427.1:p.Asp20Tyr
NM_000015.3:c.58G>T MANE Select NP_000006.2:p.Asp20Tyr
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