Canonical Allele Identifier: CA352913977

Gene: GNAT1

Linked Data

• ClinVar Variation Id: 948332
• ClinVar RCV Id: RCV001219562
• dbSNP Id: rs772876090
• gnomAD v4: 3-50193393-A-G
• MyVariant Identifiers: chr3:g.50230826A>G (hg19) ; chr3:g.50193393A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193393A>G , CM000665.2:g.50193393A>G	GRCh38
NC_000003.11:g.50230826A>G , CM000665.1:g.50230826A>G	GRCh37
NC_000003.10:g.50205830A>G	NCBI36
NG_009831.1:g.6784A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232461.8:c.278A>G MANE Select	ENSP00000232461.3:p.Asp93Gly
ENST00000232461.7:c.278A>G	ENSP00000232461.3:p.Asp93Gly
ENST00000433068.5:c.278A>G	ENSP00000387555.1:p.Asp93Gly
ENST00000440836.1:c.134A>G	ENSP00000403537.1:p.Asp45Gly
NM_000172.3:c.278A>G	NP_000163.2:p.Asp93Gly
NM_144499.2:c.278A>G	NP_653082.1:p.Asp93Gly
XM_011533595.1:c.134A>G	XP_011531897.1:p.Asp45Gly
XM_011533596.1:c.134A>G	XP_011531898.1:p.Asp45Gly
XR_940416.1:n.558A>G
NM_000172.4:c.278A>G	NP_000163.2:p.Asp93Gly
NM_144499.3:c.278A>G MANE Select	NP_653082.1:p.Asp93Gly