Canonical Allele Identifier: CA433860640
Gene: GNAT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.50230833A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50193400A>C , CM000665.2:g.50193400A>C GRCh38
NC_000003.11:g.50230833A>C , CM000665.1:g.50230833A>C GRCh37
NC_000003.10:g.50205837A>C NCBI36
NG_009831.1:g.6791A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000232461.8:c.285A>C MANE Select ENSP00000232461.3:p.Ala95=
ENST00000232461.7:c.285A>C ENSP00000232461.3:p.Ala95=
ENST00000433068.5:c.285A>C ENSP00000387555.1:p.Ala95=
ENST00000440836.1:c.141A>C ENSP00000403537.1:p.Ala47=
NM_000172.3:c.285A>C NP_000163.2:p.Ala95=
NM_144499.2:c.285A>C NP_653082.1:p.Ala95=
XM_011533595.1:c.141A>C XP_011531897.1:p.Ala47=
XM_011533596.1:c.141A>C XP_011531898.1:p.Ala47=
XR_940416.1:n.565A>C
NM_000172.4:c.285A>C NP_000163.2:p.Ala95=
NM_144499.3:c.285A>C MANE Select NP_653082.1:p.Ala95=