Canonical Allele Identifier: CA370636423
Gene: NAT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400695T>C , CM000670.2:g.18400695T>C GRCh38
NC_000008.10:g.18258205T>C , CM000670.1:g.18258205T>C GRCh37
NC_000008.9:g.18302485T>C NCBI36
NG_012246.1:g.14451T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.692T>C MANE Select ENSP00000286479.3:p.Val231Ala
ENST00000286479.3:c.692T>C ENSP00000286479.3:p.Val231Ala
ENST00000520116.1:c.302T>C ENSP00000428416.1:p.Val101Ala
NM_000015.2:c.692T>C NP_000006.2:p.Val231Ala
XM_011544358.1:c.692T>C XP_011542660.1:p.Val231Ala
XM_017012938.1:c.692T>C XP_016868427.1:p.Val231Ala
NM_000015.3:c.692T>C MANE Select NP_000006.2:p.Val231Ala