Canonical Allele Identifier: CA352911992

Gene: GNAT1

Linked Data

• MyVariant Identifiers: chr3:g.50230584A>G (hg19) ; chr3:g.50193151A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193151A>G , CM000665.2:g.50193151A>G	GRCh38
NC_000003.11:g.50230584A>G , CM000665.1:g.50230584A>G	GRCh37
NC_000003.10:g.50205588A>G	NCBI36
NG_009831.1:g.6542A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000232461.8:c.125A>G MANE Select	ENSP00000232461.3:p.Lys42Arg
ENST00000232461.7:c.125A>G	ENSP00000232461.3:p.Lys42Arg
ENST00000433068.5:c.125A>G	ENSP00000387555.1:p.Lys42Arg
ENST00000440836.1:c.-20A>G	ENSP00000403537.1:n.-20A>G
ENST00000467787.1:n.306A>G
NM_000172.3:c.125A>G	NP_000163.2:p.Lys42Arg
NM_144499.2:c.125A>G	NP_653082.1:p.Lys42Arg
XM_011533595.1:c.-20A>G	XP_011531897.1:n.-20A>G
XM_011533596.1:c.-20A>G	XP_011531898.1:n.-20A>G
XR_940416.1:n.405A>G
NM_000172.4:c.125A>G	NP_000163.2:p.Lys42Arg
NM_144499.3:c.125A>G MANE Select	NP_653082.1:p.Lys42Arg