Canonical Allele Identifier: CA2042242504
Gene: GNS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.64728959A= , CM000674.2:g.64728959A= GRCh38
NC_000012.11:g.65122739A= , CM000674.1:g.65122739A= GRCh37
NC_000012.10:g.63409006A= NCBI36
NG_008955.1:g.35488T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258145.8:c.1197T= MANE Select ENSP00000258145.3:p.Ile399=
ENST00000258145.7:c.1197T= ENSP00000258145.3:p.Ile399=
ENST00000418919.6:c.1029T= ENSP00000413130.2:p.Ile343=
ENST00000537823.1:n.196T=
ENST00000540196.5:c.557-5846T=
ENST00000540883.1:n.260T=
ENST00000541781.5:n.1252T=
ENST00000542058.5:c.1137T= ENSP00000444819.1:p.Ile379=
ENST00000543646.5:c.1293T= ENSP00000438497.1:p.Ile431=
NM_002076.3:c.1197T= NP_002067.1:p.Ile399=
NM_002076.4:c.1197T= MANE Select NP_002067.1:p.Ile399=