Canonical Allele Identifier: CA385604382

Gene: GNS

Linked Data

• MyVariant Identifiers: chr12:g.65122803A>T (hg19) ; chr12:g.64729023A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64729023A>T , CM000674.2:g.64729023A>T	GRCh38
NC_000012.11:g.65122803A>T , CM000674.1:g.65122803A>T	GRCh37
NC_000012.10:g.63409070A>T	NCBI36
NG_008955.1:g.35424T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258145.8:c.1133T>A MANE Select	ENSP00000258145.3:p.Ile378Asn
ENST00000258145.7:c.1133T>A	ENSP00000258145.3:p.Ile378Asn
ENST00000418919.6:c.965T>A	ENSP00000413130.2:p.Ile322Asn
ENST00000537823.1:n.132T>A
ENST00000540196.5:c.557-5910T>A
ENST00000540883.1:n.196T>A
ENST00000541781.5:n.1188T>A
ENST00000542058.5:c.1073T>A	ENSP00000444819.1:p.Ile358Asn
ENST00000543646.5:c.1229T>A	ENSP00000438497.1:p.Ile410Asn
NM_002076.3:c.1133T>A	NP_002067.1:p.Ile378Asn
NM_002076.4:c.1133T>A MANE Select	NP_002067.1:p.Ile378Asn