Canonical Allele Identifier: CA2580070118

Gene: GNAT1

Linked Data

• ClinVar Variation Id: 2135903
• ClinVar RCV Id: RCV003059792

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193261T>C , CM000665.2:g.50193261T>C	GRCh38
NC_000003.11:g.50230694T>C , CM000665.1:g.50230694T>C	GRCh37
NC_000003.10:g.50205698T>C	NCBI36
NG_009831.1:g.6652T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232461.8:c.150-4T>C MANE Select	ENSP00000232461.3:n.150-4T>C
ENST00000232461.7:c.150-4T>C	ENSP00000232461.3:n.150-4T>C
ENST00000433068.5:c.150-4T>C	ENSP00000387555.1:n.150-4T>C
ENST00000440836.1:c.6-4T>C	ENSP00000403537.1:n.6-4T>C
NM_000172.3:c.150-4T>C	NP_000163.2:n.150-4T>C
NM_144499.2:c.150-4T>C	NP_653082.1:n.150-4T>C
XM_011533595.1:c.6-4T>C	XP_011531897.1:n.6-4T>C
XM_011533596.1:c.6-4T>C	XP_011531898.1:n.6-4T>C
XR_940416.1:n.430-4T>C
NM_000172.4:c.150-4T>C	NP_000163.2:n.150-4T>C
NM_144499.3:c.150-4T>C MANE Select	NP_653082.1:n.150-4T>C