Canonical Allele Identifier: CA4651668
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs138707146
ExAC: 8:18258151 C / T
gnomAD v2: 8-18258151-C-T
gnomAD v3: 8-18400641-C-T
gnomAD v4: 8-18400641-C-T
MyVariant Identifiers: chr8:g.18258151C>T (hg19) chr8:g.18400641C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400641C>T , CM000670.2:g.18400641C>T GRCh38
NC_000008.10:g.18258151C>T , CM000670.1:g.18258151C>T GRCh37
NC_000008.9:g.18302431C>T NCBI36
NG_012246.1:g.14397C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.638C>T MANE Select ENSP00000286479.3:p.Pro213Leu
ENST00000286479.3:c.638C>T ENSP00000286479.3:p.Pro213Leu
ENST00000520116.1:c.248C>T ENSP00000428416.1:p.Pro83Leu
NM_000015.2:c.638C>T NP_000006.2:p.Pro213Leu
XM_011544358.1:c.638C>T XP_011542660.1:p.Pro213Leu
XM_017012938.1:c.638C>T XP_016868427.1:p.Pro213Leu
NM_000015.3:c.638C>T MANE Select NP_000006.2:p.Pro213Leu
Search 100 bp 5'
Search 100 bp 3'