Canonical Allele Identifier: CA352911919

Gene: GNAT1

Linked Data

• MyVariant Identifiers: chr3:g.50230578C>G (hg19) ; chr3:g.50193145C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193145C>G , CM000665.2:g.50193145C>G	GRCh38
NC_000003.11:g.50230578C>G , CM000665.1:g.50230578C>G	GRCh37
NC_000003.10:g.50205582C>G	NCBI36
NG_009831.1:g.6536C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000232461.8:c.119C>G MANE Select	ENSP00000232461.3:p.Ser40Cys
ENST00000232461.7:c.119C>G	ENSP00000232461.3:p.Ser40Cys
ENST00000433068.5:c.119C>G	ENSP00000387555.1:p.Ser40Cys
ENST00000440836.1:c.-26C>G	ENSP00000403537.1:n.-26C>G
ENST00000467787.1:n.300C>G
NM_000172.3:c.119C>G	NP_000163.2:p.Ser40Cys
NM_144499.2:c.119C>G	NP_653082.1:p.Ser40Cys
XM_011533595.1:c.-26C>G	XP_011531897.1:n.-26C>G
XM_011533596.1:c.-26C>G	XP_011531898.1:n.-26C>G
XR_940416.1:n.399C>G
NM_000172.4:c.119C>G	NP_000163.2:p.Ser40Cys
NM_144499.3:c.119C>G MANE Select	NP_653082.1:p.Ser40Cys