Canonical Allele Identifier: CA2412488
Gene: GNAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1347590
ClinVar RCV Id: RCV002050635 RCV003355558
dbSNP Id: rs765432703
ExAC: 3:50230784 C / G
gnomAD v2: 3-50230784-C-G
gnomAD v3: 3-50193351-C-G
gnomAD v4: 3-50193351-C-G
MyVariant Identifiers: chr3:g.50230784C>G (hg19) chr3:g.50193351C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50193351C>G , CM000665.2:g.50193351C>G GRCh38
NC_000003.11:g.50230784C>G , CM000665.1:g.50230784C>G GRCh37
NC_000003.10:g.50205788C>G NCBI36
NG_009831.1:g.6742C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000232461.8:c.236C>G MANE Select ENSP00000232461.3:p.Ala79Gly
ENST00000232461.7:c.236C>G ENSP00000232461.3:p.Ala79Gly
ENST00000433068.5:c.236C>G ENSP00000387555.1:p.Ala79Gly
ENST00000440836.1:c.92C>G ENSP00000403537.1:p.Ala31Gly
NM_000172.3:c.236C>G NP_000163.2:p.Ala79Gly
NM_144499.2:c.236C>G NP_653082.1:p.Ala79Gly
XM_011533595.1:c.92C>G XP_011531897.1:p.Ala31Gly
XM_011533596.1:c.92C>G XP_011531898.1:p.Ala31Gly
XR_940416.1:n.516C>G
NM_000172.4:c.236C>G NP_000163.2:p.Ala79Gly
NM_144499.3:c.236C>G MANE Select NP_653082.1:p.Ala79Gly
Search 100 bp 5'
Search 100 bp 3'