Canonical Allele Identifier: CA238731

Gene: GNS

Linked Data

• ClinVar Variation Id: 193221
• ClinVar RCV Id: RCV000173271 ; RCV000724352 ; RCV001271998 ; RCV001085419
• dbSNP Id: rs200441930
• ExAC: 12:65153053 G / A
• gnomAD v2: 12-65153053-G-A
• gnomAD v3: 12-64759273-G-A
• gnomAD v4: 12-64759273-G-A
• MyVariant Identifiers: chr12:g.65153053G>A (hg19) ; chr12:g.64759273G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64759273G>A , CM000674.2:g.64759273G>A	GRCh38
NC_000012.11:g.65153053G>A , CM000674.1:g.65153053G>A	GRCh37
NC_000012.10:g.63439320G>A	NCBI36
NG_008955.1:g.5174C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258145.8:c.4C>T MANE Select	ENSP00000258145.3:p.Arg2Trp
ENST00000258145.7:c.4C>T	ENSP00000258145.3:p.Arg2Trp
ENST00000542058.5:c.4C>T	ENSP00000444819.1:p.Arg2Trp
ENST00000543646.5:c.4C>T	ENSP00000438497.1:p.Arg2Trp
NM_002076.3:c.4C>T	NP_002067.1:p.Arg2Trp
NM_002076.4:c.4C>T MANE Select	NP_002067.1:p.Arg2Trp