Canonical Allele Identifier: CA2412498

Gene: GNAT1

Linked Data

• ClinVar Variation Id: 866860
• ClinVar RCV Id: RCV001075209
• dbSNP Id: rs778059585
• ExAC: 3:50230829 CT / C
• gnomAD v2: 3-50230829-CT-C
• gnomAD v4: 3-50193396-CT-C
• MyVariant Identifiers: chr3:g.50230830del (hg19) ; chr3:g.50193397del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193397del , CM000665.2:g.50193397del	GRCh38
NC_000003.11:g.50230830del , CM000665.1:g.50230830del	GRCh37
NC_000003.10:g.50205834del	NCBI36
NG_009831.1:g.6788del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232461.8:c.282del MANE Select	ENSP00000232461.3:p.Ala95HisfsTer9
ENST00000232461.7:c.282del	ENSP00000232461.3:p.Ala95HisfsTer9
ENST00000433068.5:c.282del	ENSP00000387555.1:p.Ala95HisfsTer9
ENST00000440836.1:c.138del	ENSP00000403537.1:p.Ala47HisfsTer9
NM_000172.3:c.282del	NP_000163.2:p.Ala95HisfsTer9
NM_144499.2:c.282del	NP_653082.1:p.Ala95HisfsTer9
XM_011533595.1:c.138del	XP_011531897.1:p.Ala47HisfsTer9
XM_011533596.1:c.138del	XP_011531898.1:p.Ala47HisfsTer9
XR_940416.1:n.562del
NM_000172.4:c.282del	NP_000163.2:p.Ala95HisfsTer9
NM_144499.3:c.282del MANE Select	NP_653082.1:p.Ala95HisfsTer9