Canonical Allele Identifier: CA2665815282

Gene: GNAT1

Linked Data

• gnomAD v4: 3-50193422-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193422G>C , CM000665.2:g.50193422G>C	GRCh38
NC_000003.11:g.50230855G>C , CM000665.1:g.50230855G>C	GRCh37
NC_000003.10:g.50205859G>C	NCBI36
NG_009831.1:g.6813G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232461.8:c.291+16G>C MANE Select	ENSP00000232461.3:n.291+16G>C
ENST00000232461.7:c.291+16G>C	ENSP00000232461.3:n.291+16G>C
ENST00000433068.5:c.291+16G>C	ENSP00000387555.1:n.291+16G>C
ENST00000440836.1:c.147+16G>C	ENSP00000403537.1:n.147+16G>C
NM_000172.3:c.291+16G>C	NP_000163.2:n.291+16G>C
NM_144499.2:c.291+16G>C	NP_653082.1:n.291+16G>C
XM_011533595.1:c.147+16G>C	XP_011531897.1:n.147+16G>C
XM_011533596.1:c.147+16G>C	XP_011531898.1:n.147+16G>C
XR_940416.1:n.571+16G>C
NM_000172.4:c.291+16G>C	NP_000163.2:n.291+16G>C
NM_144499.3:c.291+16G>C MANE Select	NP_653082.1:n.291+16G>C