Canonical Allele Identifier: CA480558193

Gene: GNS

Linked Data

• MyVariant Identifiers: chr12:g.65122811A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64729031A>T , CM000674.2:g.64729031A>T	GRCh38
NC_000012.11:g.65122811A>T , CM000674.1:g.65122811A>T	GRCh37
NC_000012.10:g.63409078A>T	NCBI36
NG_008955.1:g.35416T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258145.8:c.1125T>A MANE Select	ENSP00000258145.3:p.Gly375=
ENST00000258145.7:c.1125T>A	ENSP00000258145.3:p.Gly375=
ENST00000418919.6:c.957T>A	ENSP00000413130.2:p.Gly319=
ENST00000537823.1:n.124T>A
ENST00000540196.5:c.557-5918T>A
ENST00000540883.1:n.188T>A
ENST00000541781.5:n.1180T>A
ENST00000542058.5:c.1065T>A	ENSP00000444819.1:p.Gly355=
ENST00000543646.5:c.1221T>A	ENSP00000438497.1:p.Gly407=
NM_002076.3:c.1125T>A	NP_002067.1:p.Gly375=
NM_002076.4:c.1125T>A MANE Select	NP_002067.1:p.Gly375=