Canonical Allele Identifier: CA433682514
Gene: GNAT1 HGNC NCBI

Linked Data

dbSNP Id: rs1699441721
MyVariant Identifiers: chr3:g.50230701T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50193268T>C , CM000665.2:g.50193268T>C GRCh38
NC_000003.11:g.50230701T>C , CM000665.1:g.50230701T>C GRCh37
NC_000003.10:g.50205705T>C NCBI36
NG_009831.1:g.6659T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000232461.8:c.153T>C MANE Select ENSP00000232461.3:p.Ile51=
ENST00000232461.7:c.153T>C ENSP00000232461.3:p.Ile51=
ENST00000433068.5:c.153T>C ENSP00000387555.1:p.Ile51=
ENST00000440836.1:c.9T>C ENSP00000403537.1:p.Ile3=
NM_000172.3:c.153T>C NP_000163.2:p.Ile51=
NM_144499.2:c.153T>C NP_653082.1:p.Ile51=
XM_011533595.1:c.9T>C XP_011531897.1:p.Ile3=
XM_011533596.1:c.9T>C XP_011531898.1:p.Ile3=
XR_940416.1:n.433T>C
NM_000172.4:c.153T>C NP_000163.2:p.Ile51=
NM_144499.3:c.153T>C MANE Select NP_653082.1:p.Ile51=