Canonical Allele Identifier: CA352914065

Gene: GNAT1

Linked Data

• dbSNP Id: rs748872282
• gnomAD v4: 3-50193402-G-T
• MyVariant Identifiers: chr3:g.50230835G>T (hg19) ; chr3:g.50193402G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193402G>T , CM000665.2:g.50193402G>T	GRCh38
NC_000003.11:g.50230835G>T , CM000665.1:g.50230835G>T	GRCh37
NC_000003.10:g.50205839G>T	NCBI36
NG_009831.1:g.6793G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232461.8:c.287G>T MANE Select	ENSP00000232461.3:p.Arg96Leu
ENST00000232461.7:c.287G>T	ENSP00000232461.3:p.Arg96Leu
ENST00000433068.5:c.287G>T	ENSP00000387555.1:p.Arg96Leu
ENST00000440836.1:c.143G>T	ENSP00000403537.1:p.Arg48Leu
NM_000172.3:c.287G>T	NP_000163.2:p.Arg96Leu
NM_144499.2:c.287G>T	NP_653082.1:p.Arg96Leu
XM_011533595.1:c.143G>T	XP_011531897.1:p.Arg48Leu
XM_011533596.1:c.143G>T	XP_011531898.1:p.Arg48Leu
XR_940416.1:n.567G>T
NM_000172.4:c.287G>T	NP_000163.2:p.Arg96Leu
NM_144499.3:c.287G>T MANE Select	NP_653082.1:p.Arg96Leu