Canonical Allele Identifier: CA115885
Gene: GNS HGNC NCBI

Linked Data

ClinVar Variation Id: 2934
ClinVar RCV Id: RCV000003068
dbSNP Id: rs119461975
MyVariant Identifiers: chr12:g.65122768G>A (hg19) chr12:g.64728988G>A (hg38)
PubMed: PMID:3100754 PMID:17998446
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.64728988G>A , CM000674.2:g.64728988G>A GRCh38
NC_000012.11:g.65122768G>A , CM000674.1:g.65122768G>A GRCh37
NC_000012.10:g.63409035G>A NCBI36
NG_008955.1:g.35459C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000258145.8:c.1168C>T MANE Select ENSP00000258145.3:p.Gln390Ter
ENST00000258145.7:c.1168C>T ENSP00000258145.3:p.Gln390Ter
ENST00000418919.6:c.1000C>T ENSP00000413130.2:p.Gln334Ter
ENST00000537823.1:n.167C>T
ENST00000540196.5:c.557-5875C>T
ENST00000540883.1:n.231C>T
ENST00000541781.5:n.1223C>T
ENST00000542058.5:c.1108C>T ENSP00000444819.1:p.Gln370Ter
ENST00000543646.5:c.1264C>T ENSP00000438497.1:p.Gln422Ter
NM_002076.3:c.1168C>T NP_002067.1:p.Gln390Ter
NM_002076.4:c.1168C>T MANE Select NP_002067.1:p.Gln390Ter
Search 100 bp 5'
Search 100 bp 3'