Canonical Allele Identifier: CA433682491
Gene: GNAT1 HGNC NCBI

Linked Data

gnomAD v4: 3-50193265-G-A
MyVariant Identifiers: chr3:g.50230698G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50193265G>A , CM000665.2:g.50193265G>A GRCh38
NC_000003.11:g.50230698G>A , CM000665.1:g.50230698G>A GRCh37
NC_000003.10:g.50205702G>A NCBI36
NG_009831.1:g.6656G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000232461.8:c.150G>A MANE Select ENSP00000232461.3:p.Lys50=
ENST00000232461.7:c.150G>A ENSP00000232461.3:p.Lys50=
ENST00000433068.5:c.150G>A ENSP00000387555.1:p.Lys50=
ENST00000440836.1:c.6G>A ENSP00000403537.1:p.Lys2=
NM_000172.3:c.150G>A NP_000163.2:p.Lys50=
NM_144499.2:c.150G>A NP_653082.1:p.Lys50=
XM_011533595.1:c.6G>A XP_011531897.1:p.Lys2=
XM_011533596.1:c.6G>A XP_011531898.1:p.Lys2=
XR_940416.1:n.430G>A
NM_000172.4:c.150G>A NP_000163.2:p.Lys50=
NM_144499.3:c.150G>A MANE Select NP_653082.1:p.Lys50=