Canonical Allele Identifier: CA352913489
Gene: GNAT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50193344A>G , CM000665.2:g.50193344A>G GRCh38
NC_000003.11:g.50230777A>G , CM000665.1:g.50230777A>G GRCh37
NC_000003.10:g.50205781A>G NCBI36
NG_009831.1:g.6735A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000232461.8:c.229A>G MANE Select ENSP00000232461.3:p.Ile77Val
ENST00000232461.7:c.229A>G ENSP00000232461.3:p.Ile77Val
ENST00000433068.5:c.229A>G ENSP00000387555.1:p.Ile77Val
ENST00000440836.1:c.85A>G ENSP00000403537.1:p.Ile29Val
NM_000172.3:c.229A>G NP_000163.2:p.Ile77Val
NM_144499.2:c.229A>G NP_653082.1:p.Ile77Val
XM_011533595.1:c.85A>G XP_011531897.1:p.Ile29Val
XM_011533596.1:c.85A>G XP_011531898.1:p.Ile29Val
XR_940416.1:n.509A>G
NM_000172.4:c.229A>G NP_000163.2:p.Ile77Val
NM_144499.3:c.229A>G MANE Select NP_653082.1:p.Ile77Val