Canonical Allele Identifier: CA352913852

Gene: GNAT1

Linked Data

• dbSNP Id: rs1375880116
• gnomAD v2: 3-50230813-A-C
• gnomAD v4: 3-50193380-A-C
• MyVariant Identifiers: chr3:g.50230813A>C (hg19) ; chr3:g.50193380A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193380A>C , CM000665.2:g.50193380A>C	GRCh38
NC_000003.11:g.50230813A>C , CM000665.1:g.50230813A>C	GRCh37
NC_000003.10:g.50205817A>C	NCBI36
NG_009831.1:g.6771A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232461.8:c.265A>C MANE Select	ENSP00000232461.3:p.Ile89Leu
ENST00000232461.7:c.265A>C	ENSP00000232461.3:p.Ile89Leu
ENST00000433068.5:c.265A>C	ENSP00000387555.1:p.Ile89Leu
ENST00000440836.1:c.121A>C	ENSP00000403537.1:p.Ile41Leu
NM_000172.3:c.265A>C	NP_000163.2:p.Ile89Leu
NM_144499.2:c.265A>C	NP_653082.1:p.Ile89Leu
XM_011533595.1:c.121A>C	XP_011531897.1:p.Ile41Leu
XM_011533596.1:c.121A>C	XP_011531898.1:p.Ile41Leu
XR_940416.1:n.545A>C
NM_000172.4:c.265A>C	NP_000163.2:p.Ile89Leu
NM_144499.3:c.265A>C MANE Select	NP_653082.1:p.Ile89Leu