Canonical Allele Identifier: CA433860638
Gene: GNAT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.50230830T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50193397T>A , CM000665.2:g.50193397T>A GRCh38
NC_000003.11:g.50230830T>A , CM000665.1:g.50230830T>A GRCh37
NC_000003.10:g.50205834T>A NCBI36
NG_009831.1:g.6788T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000232461.8:c.282T>A MANE Select ENSP00000232461.3:p.Ser94=
ENST00000232461.7:c.282T>A ENSP00000232461.3:p.Ser94=
ENST00000433068.5:c.282T>A ENSP00000387555.1:p.Ser94=
ENST00000440836.1:c.138T>A ENSP00000403537.1:p.Ser46=
NM_000172.3:c.282T>A NP_000163.2:p.Ser94=
NM_144499.2:c.282T>A NP_653082.1:p.Ser94=
XM_011533595.1:c.138T>A XP_011531897.1:p.Ser46=
XM_011533596.1:c.138T>A XP_011531898.1:p.Ser46=
XR_940416.1:n.562T>A
NM_000172.4:c.282T>A NP_000163.2:p.Ser94=
NM_144499.3:c.282T>A MANE Select NP_653082.1:p.Ser94=