Canonical Allele Identifier: CA2412765

Gene: GNAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50194806C>T , CM000665.2:g.50194806C>T	GRCh38
NC_000003.11:g.50232239C>T , CM000665.1:g.50232239C>T	GRCh37
NC_000003.10:g.50207243C>T	NCBI36
NG_009831.1:g.8197C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_144499.3:c.904C>T MANE Select	NP_653082.1:p.Gln302Ter
ENST00000232461.8:c.904C>T MANE Select	ENSP00000232461.3:p.Gln302Ter
NM_000172.3:c.904C>T	NP_000163.2:p.Gln302Ter
NM_000172.4:c.904C>T	NP_000163.2:p.Gln302Ter
NM_144499.2:c.904C>T	NP_653082.1:p.Gln302Ter
ENST00000232461.7:c.904C>T	ENSP00000232461.3:p.Gln302Ter
ENST00000433068.5:c.904C>T	ENSP00000387555.1:p.Gln302Ter
XM_011533595.1:c.760C>T	XP_011531897.1:p.Gln254Ter
XM_011533596.1:c.760C>T	XP_011531898.1:p.Gln254Ter
XR_940416.1:n.1149C>T