Canonical Allele Identifier: CA2042242635
Gene: GNS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.64729041A= , CM000674.2:g.64729041A= GRCh38
NC_000012.11:g.65122821A= , CM000674.1:g.65122821A= GRCh37
NC_000012.10:g.63409088A= NCBI36
NG_008955.1:g.35406T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258145.8:c.1115T= MANE Select ENSP00000258145.3:p.Ile372=
ENST00000258145.7:c.1115T= ENSP00000258145.3:p.Ile372=
ENST00000418919.6:c.947T= ENSP00000413130.2:p.Ile316=
ENST00000537823.1:n.114T=
ENST00000540196.5:c.557-5928T=
ENST00000540883.1:n.178T=
ENST00000541781.5:n.1170T=
ENST00000542058.5:c.1055T= ENSP00000444819.1:p.Ile352=
ENST00000543646.5:c.1211T= ENSP00000438497.1:p.Ile404=
NM_002076.3:c.1115T= NP_002067.1:p.Ile372=
NM_002076.4:c.1115T= MANE Select NP_002067.1:p.Ile372=