Canonical Allele Identifier: CA480558169

Gene: GNS

Linked Data

• MyVariant Identifiers: chr12:g.65122775A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64728995A>G , CM000674.2:g.64728995A>G	GRCh38
NC_000012.11:g.65122775A>G , CM000674.1:g.65122775A>G	GRCh37
NC_000012.10:g.63409042A>G	NCBI36
NG_008955.1:g.35452T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258145.8:c.1161T>C MANE Select	ENSP00000258145.3:p.Asn387=
ENST00000258145.7:c.1161T>C	ENSP00000258145.3:p.Asn387=
ENST00000418919.6:c.993T>C	ENSP00000413130.2:p.Asn331=
ENST00000537823.1:n.160T>C
ENST00000540196.5:c.557-5882T>C
ENST00000540883.1:n.224T>C
ENST00000541781.5:n.1216T>C
ENST00000542058.5:c.1101T>C	ENSP00000444819.1:p.Asn367=
ENST00000543646.5:c.1257T>C	ENSP00000438497.1:p.Asn419=
NM_002076.3:c.1161T>C	NP_002067.1:p.Asn387=
NM_002076.4:c.1161T>C MANE Select	NP_002067.1:p.Asn387=