Canonical Allele Identifier: CA74602483

Gene: GNAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50196169G>A , CM000665.2:g.50196169G>A	GRCh38
NC_000003.11:g.50233602G>A , CM000665.1:g.50233602G>A	GRCh37
NC_000003.10:g.50208606G>A	NCBI36
NG_009831.1:g.9560G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_144499.3:c.*903G>A MANE Select	NP_653082.1:n.*903G>A
ENST00000232461.8:c.*903G>A MANE Select	ENSP00000232461.3:n.*903G>A
NM_000172.3:c.*2-233G>A	NP_000163.2:n.*2-233G>A
NM_000172.4:c.*2-233G>A	NP_000163.2:n.*2-233G>A
NM_144499.2:c.*903G>A	NP_653082.1:n.*903G>A
ENST00000232461.7:c.*903G>A	ENSP00000232461.3:n.*903G>A
ENST00000433068.5:c.*2-233G>A	ENSP00000387555.1:n.*2-233G>A
XM_011533595.1:c.*2-233G>A	XP_011531897.1:n.*2-233G>A
XM_011533596.1:c.*2-114G>A	XP_011531898.1:n.*2-114G>A
XR_940416.1:n.1300-233G>A