Canonical Allele Identifier: CA2573137204

Gene: GNAT1

Linked Data

• ClinVar Variation Id: 1405096
• ClinVar RCV Id: RCV001903560
• dbSNP Id: rs2109138554

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193392_50193393delinsAT , CM000665.2:g.50193392_50193393delinsAT	GRCh38
NC_000003.11:g.50230825_50230826delinsAT , CM000665.1:g.50230825_50230826delinsAT	GRCh37
NC_000003.10:g.50205829_50205830delinsAT	NCBI36
NG_009831.1:g.6783_6784delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232461.8:c.277_278delinsAT MANE Select	ENSP00000232461.3:p.Asp93Ile
ENST00000232461.7:c.277_278delinsAT	ENSP00000232461.3:p.Asp93Ile
ENST00000433068.5:c.277_278delinsAT	ENSP00000387555.1:p.Asp93Ile
ENST00000440836.1:c.133_134delinsAT	ENSP00000403537.1:p.Asp45Ile
NM_000172.3:c.277_278delinsAT	NP_000163.2:p.Asp93Ile
NM_144499.2:c.277_278delinsAT	NP_653082.1:p.Asp93Ile
XM_011533595.1:c.133_134delinsAT	XP_011531897.1:p.Asp45Ile
XM_011533596.1:c.133_134delinsAT	XP_011531898.1:p.Asp45Ile
XR_940416.1:n.557_558delinsAT
NM_000172.4:c.277_278delinsAT	NP_000163.2:p.Asp93Ile
NM_144499.3:c.277_278delinsAT MANE Select	NP_653082.1:p.Asp93Ile