Canonical Allele Identifier: CA385604517

Gene: GNS

Linked Data

• MyVariant Identifiers: chr12:g.65122837T>G (hg19) ; chr12:g.64729057T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64729057T>G , CM000674.2:g.64729057T>G	GRCh38
NC_000012.11:g.65122837T>G , CM000674.1:g.65122837T>G	GRCh37
NC_000012.10:g.63409104T>G	NCBI36
NG_008955.1:g.35390A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258145.8:c.1099A>C MANE Select	ENSP00000258145.3:p.Met367Leu
ENST00000258145.7:c.1099A>C	ENSP00000258145.3:p.Met367Leu
ENST00000418919.6:c.931A>C	ENSP00000413130.2:p.Met311Leu
ENST00000537823.1:n.98A>C
ENST00000540196.5:c.557-5944A>C
ENST00000540883.1:n.162A>C
ENST00000541781.5:n.1154A>C
ENST00000542058.5:c.1039A>C	ENSP00000444819.1:p.Met347Leu
ENST00000543646.5:c.1195A>C	ENSP00000438497.1:p.Met399Leu
NM_002076.3:c.1099A>C	NP_002067.1:p.Met367Leu
NM_002076.4:c.1099A>C MANE Select	NP_002067.1:p.Met367Leu