Canonical Allele Identifier: CA370635589
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1200849934
gnomAD v2: 8-18257814-T-C
gnomAD v4: 8-18400304-T-C
MyVariant Identifiers: chr8:g.18257814T>C (hg19) chr8:g.18400304T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400304T>C , CM000670.2:g.18400304T>C GRCh38
NC_000008.10:g.18257814T>C , CM000670.1:g.18257814T>C GRCh37
NC_000008.9:g.18302094T>C NCBI36
NG_012246.1:g.14060T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.301T>C MANE Select ENSP00000286479.3:p.Tyr101His
ENST00000286479.3:c.301T>C ENSP00000286479.3:p.Tyr101His
ENST00000520116.1:c.-57-33T>C ENSP00000428416.1:n.-57-33T>C
NM_000015.2:c.301T>C NP_000006.2:p.Tyr101His
XM_011544358.1:c.301T>C XP_011542660.1:p.Tyr101His
XM_017012938.1:c.301T>C XP_016868427.1:p.Tyr101His
NM_000015.3:c.301T>C MANE Select NP_000006.2:p.Tyr101His
Search 100 bp 5'
Search 100 bp 3'