Canonical Allele Identifier: CA433860422
Gene: GNAT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.50230737C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50193304C>A , CM000665.2:g.50193304C>A GRCh38
NC_000003.11:g.50230737C>A , CM000665.1:g.50230737C>A GRCh37
NC_000003.10:g.50205741C>A NCBI36
NG_009831.1:g.6695C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000232461.8:c.189C>A MANE Select ENSP00000232461.3:p.Leu63=
ENST00000232461.7:c.189C>A ENSP00000232461.3:p.Leu63=
ENST00000433068.5:c.189C>A ENSP00000387555.1:p.Leu63=
ENST00000440836.1:c.45C>A ENSP00000403537.1:p.Leu15=
NM_000172.3:c.189C>A NP_000163.2:p.Leu63=
NM_144499.2:c.189C>A NP_653082.1:p.Leu63=
XM_011533595.1:c.45C>A XP_011531897.1:p.Leu15=
XM_011533596.1:c.45C>A XP_011531898.1:p.Leu15=
XR_940416.1:n.469C>A
NM_000172.4:c.189C>A NP_000163.2:p.Leu63=
NM_144499.3:c.189C>A MANE Select NP_653082.1:p.Leu63=