Canonical Allele Identifier: CA2412453

Gene: GNAT1

Linked Data

• ClinVar Variation Id: 346047
• ClinVar RCV Id: RCV000317008 ; RCV000956099
• dbSNP Id: rs34797487
• ExAC: 3:50230576 G / A
• gnomAD v2: 3-50230576-G-A
• gnomAD v3: 3-50193143-G-A
• gnomAD v4: 3-50193143-G-A
• MyVariant Identifiers: chr3:g.50230576G>A (hg19) ; chr3:g.50193143G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193143G>A , CM000665.2:g.50193143G>A	GRCh38
NC_000003.11:g.50230576G>A , CM000665.1:g.50230576G>A	GRCh37
NC_000003.10:g.50205580G>A	NCBI36
NG_009831.1:g.6534G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000232461.8:c.117G>A MANE Select	ENSP00000232461.3:p.Glu39=
ENST00000232461.7:c.117G>A	ENSP00000232461.3:p.Glu39=
ENST00000433068.5:c.117G>A	ENSP00000387555.1:p.Glu39=
ENST00000440836.1:c.-28G>A	ENSP00000403537.1:n.-28G>A
ENST00000467787.1:n.298G>A
NM_000172.3:c.117G>A	NP_000163.2:p.Glu39=
NM_144499.2:c.117G>A	NP_653082.1:p.Glu39=
XM_011533595.1:c.-28G>A	XP_011531897.1:n.-28G>A
XM_011533596.1:c.-28G>A	XP_011531898.1:n.-28G>A
XR_940416.1:n.397G>A
NM_000172.4:c.117G>A	NP_000163.2:p.Glu39=
NM_144499.3:c.117G>A MANE Select	NP_653082.1:p.Glu39=