Canonical Allele Identifier: CA2042242543
Gene: GNS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.64728990G= , CM000674.2:g.64728990G= GRCh38
NC_000012.11:g.65122770G= , CM000674.1:g.65122770G= GRCh37
NC_000012.10:g.63409037G= NCBI36
NG_008955.1:g.35457C=

Transcript Alleles

HGVS Amino-acid change
ENST00000258145.8:c.1166C= MANE Select ENSP00000258145.3:p.Thr389=
ENST00000258145.7:c.1166C= ENSP00000258145.3:p.Thr389=
ENST00000418919.6:c.998C= ENSP00000413130.2:p.Thr333=
ENST00000537823.1:n.165C=
ENST00000540196.5:c.557-5877C=
ENST00000540883.1:n.229C=
ENST00000541781.5:n.1221C=
ENST00000542058.5:c.1106C= ENSP00000444819.1:p.Thr369=
ENST00000543646.5:c.1262C= ENSP00000438497.1:p.Thr421=
NM_002076.3:c.1166C= NP_002067.1:p.Thr389=
NM_002076.4:c.1166C= MANE Select NP_002067.1:p.Thr389=