Canonical Allele Identifier: CA2412478
Gene: GNAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2420829
ClinVar RCV Id: RCV003121994
dbSNP Id: rs747846195
ExAC: 3:50230716 G / C
gnomAD v2: 3-50230716-G-C
gnomAD v3: 3-50193283-G-C
gnomAD v4: 3-50193283-G-C
MyVariant Identifiers: chr3:g.50230716G>C (hg19) chr3:g.50193283G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50193283G>C , CM000665.2:g.50193283G>C GRCh38
NC_000003.11:g.50230716G>C , CM000665.1:g.50230716G>C GRCh37
NC_000003.10:g.50205720G>C NCBI36
NG_009831.1:g.6674G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000232461.8:c.168G>C MANE Select ENSP00000232461.3:p.Gly56=
ENST00000232461.7:c.168G>C ENSP00000232461.3:p.Gly56=
ENST00000433068.5:c.168G>C ENSP00000387555.1:p.Gly56=
ENST00000440836.1:c.24G>C ENSP00000403537.1:p.Gly8=
NM_000172.3:c.168G>C NP_000163.2:p.Gly56=
NM_144499.2:c.168G>C NP_653082.1:p.Gly56=
XM_011533595.1:c.24G>C XP_011531897.1:p.Gly8=
XM_011533596.1:c.24G>C XP_011531898.1:p.Gly8=
XR_940416.1:n.448G>C
NM_000172.4:c.168G>C NP_000163.2:p.Gly56=
NM_144499.3:c.168G>C MANE Select NP_653082.1:p.Gly56=
Search 100 bp 5'
Search 100 bp 3'