Canonical Allele Identifier: CA480558179

Gene: GNS

Linked Data

• MyVariant Identifiers: chr12:g.65122790A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64729010A>G , CM000674.2:g.64729010A>G	GRCh38
NC_000012.11:g.65122790A>G , CM000674.1:g.65122790A>G	GRCh37
NC_000012.10:g.63409057A>G	NCBI36
NG_008955.1:g.35437T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258145.8:c.1146T>C MANE Select	ENSP00000258145.3:p.Ala382=
ENST00000258145.7:c.1146T>C	ENSP00000258145.3:p.Ala382=
ENST00000418919.6:c.978T>C	ENSP00000413130.2:p.Ala326=
ENST00000537823.1:n.145T>C
ENST00000540196.5:c.557-5897T>C
ENST00000540883.1:n.209T>C
ENST00000541781.5:n.1201T>C
ENST00000542058.5:c.1086T>C	ENSP00000444819.1:p.Ala362=
ENST00000543646.5:c.1242T>C	ENSP00000438497.1:p.Ala414=
NM_002076.3:c.1146T>C	NP_002067.1:p.Ala382=
NM_002076.4:c.1146T>C MANE Select	NP_002067.1:p.Ala382=