Canonical Allele Identifier: CA2412758
Community Standard Title: NM_144499.3(GNAT1):c.882C>T (p.Asp294=)
Gene: GNAT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50194784C>T , CM000665.2:g.50194784C>T GRCh38
NC_000003.11:g.50232217C>T , CM000665.1:g.50232217C>T GRCh37
NC_000003.10:g.50207221C>T NCBI36
NG_009831.1:g.8175C>T

Transcript Alleles

HGVS Amino-acid Change
NM_144499.3:c.882C>T MANE Select NP_653082.1:p.Asp294=
ENST00000232461.8:c.882C>T MANE Select ENSP00000232461.3:p.Asp294=
NM_000172.3:c.882C>T NP_000163.2:p.Asp294=
NM_000172.4:c.882C>T NP_000163.2:p.Asp294=
NM_144499.2:c.882C>T NP_653082.1:p.Asp294=
ENST00000232461.7:c.882C>T ENSP00000232461.3:p.Asp294=
ENST00000433068.5:c.882C>T ENSP00000387555.1:p.Asp294=
XM_011533595.1:c.738C>T XP_011531897.1:p.Asp246=
XM_011533596.1:c.738C>T XP_011531898.1:p.Asp246=
XR_940416.1:n.1127C>T