Canonical Allele Identifier: CA6669625

Gene: GNS

Linked Data

• ClinVar Variation Id: 258550
• ClinVar RCV Id: RCV000242558 ; RCV000556888 ; RCV001274492 ; RCV001660225
• dbSNP Id: rs61743822
• ExAC: 12:65110582 C / T
• gnomAD v2: 12-65110582-C-T
• gnomAD v3: 12-64716802-C-T
• gnomAD v4: 12-64716802-C-T
• MyVariant Identifiers: chr12:g.65110582C>T (hg19) ; chr12:g.64716802C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64716802C>T , CM000674.2:g.64716802C>T	GRCh38
NC_000012.11:g.65110582C>T , CM000674.1:g.65110582C>T	GRCh37
NC_000012.10:g.63396849C>T	NCBI36
NG_008955.1:g.47645G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258145.8:c.1598G>A MANE Select	ENSP00000258145.3:p.Arg533His
ENST00000258145.7:c.1598G>A	ENSP00000258145.3:p.Arg533His
ENST00000418919.6:c.1430G>A	ENSP00000413130.2:p.Arg477His
ENST00000541781.5:n.1653G>A
ENST00000542058.5:c.1538G>A	ENSP00000444819.1:p.Arg513His
ENST00000543646.5:c.1694G>A	ENSP00000438497.1:p.Arg565His
NM_002076.3:c.1598G>A	NP_002067.1:p.Arg533His
NM_002076.4:c.1598G>A MANE Select	NP_002067.1:p.Arg533His