Canonical Allele Identifier: CA385604356

Gene: GNS

Linked Data

• MyVariant Identifiers: chr12:g.65122798C>T (hg19) ; chr12:g.64729018C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64729018C>T , CM000674.2:g.64729018C>T	GRCh38
NC_000012.11:g.65122798C>T , CM000674.1:g.65122798C>T	GRCh37
NC_000012.10:g.63409065C>T	NCBI36
NG_008955.1:g.35429G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258145.8:c.1138G>A MANE Select	ENSP00000258145.3:p.Asp380Asn
ENST00000258145.7:c.1138G>A	ENSP00000258145.3:p.Asp380Asn
ENST00000418919.6:c.970G>A	ENSP00000413130.2:p.Asp324Asn
ENST00000537823.1:n.137G>A
ENST00000540196.5:c.557-5905G>A
ENST00000540883.1:n.201G>A
ENST00000541781.5:n.1193G>A
ENST00000542058.5:c.1078G>A	ENSP00000444819.1:p.Asp360Asn
ENST00000543646.5:c.1234G>A	ENSP00000438497.1:p.Asp412Asn
NM_002076.3:c.1138G>A	NP_002067.1:p.Asp380Asn
NM_002076.4:c.1138G>A MANE Select	NP_002067.1:p.Asp380Asn