Canonical Allele Identifier: CA433860482

Gene: GNAT1

Linked Data

• ClinVar Variation Id: 2830838
• ClinVar RCV Id: RCV003678875
• MyVariant Identifiers: chr3:g.50230770G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193337G>A , CM000665.2:g.50193337G>A	GRCh38
NC_000003.11:g.50230770G>A , CM000665.1:g.50230770G>A	GRCh37
NC_000003.10:g.50205774G>A	NCBI36
NG_009831.1:g.6728G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232461.8:c.222G>A MANE Select	ENSP00000232461.3:p.Leu74=
ENST00000232461.7:c.222G>A	ENSP00000232461.3:p.Leu74=
ENST00000433068.5:c.222G>A	ENSP00000387555.1:p.Leu74=
ENST00000440836.1:c.78G>A	ENSP00000403537.1:p.Leu26=
NM_000172.3:c.222G>A	NP_000163.2:p.Leu74=
NM_144499.2:c.222G>A	NP_653082.1:p.Leu74=
XM_011533595.1:c.78G>A	XP_011531897.1:p.Leu26=
XM_011533596.1:c.78G>A	XP_011531898.1:p.Leu26=
XR_940416.1:n.502G>A
NM_000172.4:c.222G>A	NP_000163.2:p.Leu74=
NM_144499.3:c.222G>A MANE Select	NP_653082.1:p.Leu74=