Canonical Allele Identifier: CA2665813703

Gene: GNAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50195652G>T , CM000665.2:g.50195652G>T	GRCh38
NC_000003.11:g.50233085G>T , CM000665.1:g.50233085G>T	GRCh37
NC_000003.10:g.50208089G>T	NCBI36
NG_009831.1:g.9043G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_144499.3:c.*386G>T MANE Select	NP_653082.1:n.*386G>T
ENST00000232461.8:c.*386G>T MANE Select	ENSP00000232461.3:n.*386G>T
NM_000172.3:c.*1+696G>T	NP_000163.2:n.*1+696G>T
NM_000172.4:c.*1+696G>T	NP_000163.2:n.*1+696G>T
NM_144499.2:c.*386G>T	NP_653082.1:n.*386G>T
ENST00000232461.7:c.*386G>T	ENSP00000232461.3:n.*386G>T
ENST00000433068.5:c.*1+696G>T	ENSP00000387555.1:n.*1+696G>T
XM_011533595.1:c.*1+696G>T	XP_011531897.1:n.*1+696G>T
XM_011533596.1:c.*2-631G>T	XP_011531898.1:n.*2-631G>T
XR_940416.1:n.1299+696G>T