Canonical Allele Identifier: CA480558172

Gene: GNS

Linked Data

• MyVariant Identifiers: chr12:g.65122778T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64728998T>G , CM000674.2:g.64728998T>G	GRCh38
NC_000012.11:g.65122778T>G , CM000674.1:g.65122778T>G	GRCh37
NC_000012.10:g.63409045T>G	NCBI36
NG_008955.1:g.35449A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258145.8:c.1158A>C MANE Select	ENSP00000258145.3:p.Leu386=
ENST00000258145.7:c.1158A>C	ENSP00000258145.3:p.Leu386=
ENST00000418919.6:c.990A>C	ENSP00000413130.2:p.Leu330=
ENST00000537823.1:n.157A>C
ENST00000540196.5:c.557-5885A>C
ENST00000540883.1:n.221A>C
ENST00000541781.5:n.1213A>C
ENST00000542058.5:c.1098A>C	ENSP00000444819.1:p.Leu366=
ENST00000543646.5:c.1254A>C	ENSP00000438497.1:p.Leu418=
NM_002076.3:c.1158A>C	NP_002067.1:p.Leu386=
NM_002076.4:c.1158A>C MANE Select	NP_002067.1:p.Leu386=