Canonical Allele Identifier: CA907920500

Gene: GNAT1

Linked Data

• dbSNP Id: rs1365955778
• gnomAD v4: 3-50193392-G-GACTCT
• MyVariant Identifiers: chr3:g.50230825_50230826insACTCT (hg19) ; chr3:g.50193392_50193393insACTCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193393_50193397dup , CM000665.2:g.50193393_50193397dup	GRCh38
NC_000003.11:g.50230826_50230830dup , CM000665.1:g.50230826_50230830dup	GRCh37
NC_000003.10:g.50205830_50205834dup	NCBI36
NG_009831.1:g.6784_6788dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232461.8:c.278_282dup MANE Select	ENSP00000232461.3:p.Ala95ThrfsTer11
ENST00000232461.7:c.278_282dup	ENSP00000232461.3:p.Ala95ThrfsTer11
ENST00000433068.5:c.278_282dup	ENSP00000387555.1:p.Ala95ThrfsTer11
ENST00000440836.1:c.134_138dup	ENSP00000403537.1:p.Ala47ThrfsTer11
NM_000172.3:c.278_282dup	NP_000163.2:p.Ala95ThrfsTer11
NM_144499.2:c.278_282dup	NP_653082.1:p.Ala95ThrfsTer11
XM_011533595.1:c.134_138dup	XP_011531897.1:p.Ala47ThrfsTer11
XM_011533596.1:c.134_138dup	XP_011531898.1:p.Ala47ThrfsTer11
XR_940416.1:n.558_562dup
NM_000172.4:c.278_282dup	NP_000163.2:p.Ala95ThrfsTer11
NM_144499.3:c.278_282dup MANE Select	NP_653082.1:p.Ala95ThrfsTer11