Canonical Allele Identifier: CA6669752
Community Standard Title: NM_002076.4(GNS):c.1113C>T (p.Asn371=)
Gene: GNS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.64729043G>A , CM000674.2:g.64729043G>A GRCh38
NC_000012.11:g.65122823G>A , CM000674.1:g.65122823G>A GRCh37
NC_000012.10:g.63409090G>A NCBI36
NG_008955.1:g.35404C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002076.4:c.1113C>T MANE Select NP_002067.1:p.Asn371=
ENST00000258145.8:c.1113C>T MANE Select ENSP00000258145.3:p.Asn371=
NM_002076.3:c.1113C>T NP_002067.1:p.Asn371=
ENST00000258145.7:c.1113C>T ENSP00000258145.3:p.Asn371=
ENST00000418919.6:c.945C>T ENSP00000413130.2:p.Asn315=
ENST00000537823.1:n.112C>T
ENST00000540196.5:c.557-5930C>T
ENST00000540883.1:n.176C>T
ENST00000541781.5:n.1168C>T
ENST00000542058.5:c.1053C>T ENSP00000444819.1:p.Asn351=
ENST00000543646.5:c.1209C>T ENSP00000438497.1:p.Asn403=