Canonical Allele Identifier: CA370636565
Gene: NAT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400760G>T , CM000670.2:g.18400760G>T GRCh38
NC_000008.10:g.18258270G>T , CM000670.1:g.18258270G>T GRCh37
NC_000008.9:g.18302550G>T NCBI36
NG_012246.1:g.14516G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.757G>T MANE Select ENSP00000286479.3:p.Val253Phe
ENST00000286479.3:c.757G>T ENSP00000286479.3:p.Val253Phe
ENST00000520116.1:c.367G>T ENSP00000428416.1:p.Val123Phe
NM_000015.2:c.757G>T NP_000006.2:p.Val253Phe
XM_011544358.1:c.757G>T XP_011542660.1:p.Val253Phe
XM_017012938.1:c.757G>T XP_016868427.1:p.Val253Phe
NM_000015.3:c.757G>T MANE Select NP_000006.2:p.Val253Phe