Canonical Allele Identifier: CA433860535
Gene: GNAT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.50230791A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50193358A>G , CM000665.2:g.50193358A>G GRCh38
NC_000003.11:g.50230791A>G , CM000665.1:g.50230791A>G GRCh37
NC_000003.10:g.50205795A>G NCBI36
NG_009831.1:g.6749A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000232461.8:c.243A>G MANE Select ENSP00000232461.3:p.Val81=
ENST00000232461.7:c.243A>G ENSP00000232461.3:p.Val81=
ENST00000433068.5:c.243A>G ENSP00000387555.1:p.Val81=
ENST00000440836.1:c.99A>G ENSP00000403537.1:p.Val33=
NM_000172.3:c.243A>G NP_000163.2:p.Val81=
NM_144499.2:c.243A>G NP_653082.1:p.Val81=
XM_011533595.1:c.99A>G XP_011531897.1:p.Val33=
XM_011533596.1:c.99A>G XP_011531898.1:p.Val33=
XR_940416.1:n.523A>G
NM_000172.4:c.243A>G NP_000163.2:p.Val81=
NM_144499.3:c.243A>G MANE Select NP_653082.1:p.Val81=