Canonical Allele Identifier: CA352912785
Gene: GNAT1 HGNC NCBI

Linked Data

dbSNP Id: rs1242103172
gnomAD v2: 3-50230726-G-C
gnomAD v3: 3-50193293-G-C
gnomAD v4: 3-50193293-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50193293G>C , CM000665.2:g.50193293G>C GRCh38
NC_000003.11:g.50230726G>C , CM000665.1:g.50230726G>C GRCh37
NC_000003.10:g.50205730G>C NCBI36
NG_009831.1:g.6684G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000232461.8:c.178G>C MANE Select ENSP00000232461.3:p.Glu60Gln
ENST00000232461.7:c.178G>C ENSP00000232461.3:p.Glu60Gln
ENST00000433068.5:c.178G>C ENSP00000387555.1:p.Glu60Gln
ENST00000440836.1:c.34G>C ENSP00000403537.1:p.Glu12Gln
NM_000172.3:c.178G>C NP_000163.2:p.Glu60Gln
NM_144499.2:c.178G>C NP_653082.1:p.Glu60Gln
XM_011533595.1:c.34G>C XP_011531897.1:p.Glu12Gln
XM_011533596.1:c.34G>C XP_011531898.1:p.Glu12Gln
XR_940416.1:n.458G>C
NM_000172.4:c.178G>C NP_000163.2:p.Glu60Gln
NM_144499.3:c.178G>C MANE Select NP_653082.1:p.Glu60Gln