Canonical Allele Identifier: CA352912205

Gene: GNAT1

Linked Data

• MyVariant Identifiers: chr3:g.50230605T>A (hg19) ; chr3:g.50193172T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193172T>A , CM000665.2:g.50193172T>A	GRCh38
NC_000003.11:g.50230605T>A , CM000665.1:g.50230605T>A	GRCh37
NC_000003.10:g.50205609T>A	NCBI36
NG_009831.1:g.6563T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232461.8:c.146T>A MANE Select	ENSP00000232461.3:p.Met49Lys
ENST00000232461.7:c.146T>A	ENSP00000232461.3:p.Met49Lys
ENST00000433068.5:c.146T>A	ENSP00000387555.1:p.Met49Lys
ENST00000440836.1:c.2T>A	ENSP00000403537.1:p.Met1Lys
ENST00000467787.1:n.327T>A
NM_000172.3:c.146T>A	NP_000163.2:p.Met49Lys
NM_144499.2:c.146T>A	NP_653082.1:p.Met49Lys
XM_011533595.1:c.2T>A	XP_011531897.1:p.Met1Lys
XM_011533596.1:c.2T>A	XP_011531898.1:p.Met1Lys
XR_940416.1:n.426T>A
NM_000172.4:c.146T>A	NP_000163.2:p.Met49Lys
NM_144499.3:c.146T>A MANE Select	NP_653082.1:p.Met49Lys