Canonical Allele Identifier: CA6669742
Community Standard Title: NM_002076.4(GNS):c.1147G>A (p.Gly383Ser)
Gene: GNS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.64729009C>T , CM000674.2:g.64729009C>T GRCh38
NC_000012.11:g.65122789C>T , CM000674.1:g.65122789C>T GRCh37
NC_000012.10:g.63409056C>T NCBI36
NG_008955.1:g.35438G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002076.4:c.1147G>A MANE Select NP_002067.1:p.Gly383Ser
ENST00000258145.8:c.1147G>A MANE Select ENSP00000258145.3:p.Gly383Ser
NM_002076.3:c.1147G>A NP_002067.1:p.Gly383Ser
ENST00000258145.7:c.1147G>A ENSP00000258145.3:p.Gly383Ser
ENST00000418919.6:c.979G>A ENSP00000413130.2:p.Gly327Ser
ENST00000537823.1:n.146G>A
ENST00000540196.5:c.557-5896G>A
ENST00000540883.1:n.210G>A
ENST00000541781.5:n.1202G>A
ENST00000542058.5:c.1087G>A ENSP00000444819.1:p.Gly363Ser
ENST00000543646.5:c.1243G>A ENSP00000438497.1:p.Gly415Ser