Canonical Allele Identifier: CA1742494510
Gene: GARIN1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128723204A= , CM000669.2:g.128723204A= GRCh38
NC_000007.13:g.128363258A= , CM000669.1:g.128363258A= GRCh37
NC_000007.12:g.128150494A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000621392.5:c.695A= MANE Select ENSP00000477573.2:p.Gln232=
ENST00000315184.9:c.695A= ENSP00000326652.4:p.Gln232=
ENST00000466842.1:c.263A= ENSP00000417930.1:p.Gln88=
ENST00000469348.5:n.554A=
ENST00000471558.5:c.695A= ENSP00000418672.1:p.Gln232=
ENST00000484425.6:c.266A= ENSP00000418591.2:p.Gln89=
ENST00000485070.5:c.398A= ENSP00000418192.1:p.Gln133=
ENST00000493738.5:n.651A=
ENST00000621392.4:c.398A= ENSP00000477573.1:p.Gln133=
NM_001282788.1:c.695A= NP_001269717.1:p.Gln232=
NM_001282789.1:c.398A= NP_001269718.1:p.Gln133=
NM_032599.3:c.695A= NP_115988.1:p.Gln232=
NR_104242.1:n.795A=
NR_104243.1:n.684A=
XM_017012743.2:c.695A= XP_016868232.1:p.Gln232=
XR_002956499.1:n.746A=
NM_001282788.2:c.695A= NP_001269717.1:p.Gln232=
NM_001282789.2:c.398A= NP_001269718.1:p.Gln133=
NM_032599.4:c.695A= NP_115988.1:p.Gln232=
NR_104242.2:n.746A=
NR_104243.2:n.684A=
NM_001282788.3:c.695A= MANE Select NP_001269717.1:p.Gln232=