Canonical Allele Identifier: CA480558168
Gene: GNS HGNC NCBI

Linked Data

ClinVar Variation Id: 1146710
ClinVar RCV Id: RCV001486005
dbSNP Id: rs1263703439
gnomAD v2: 12-65122772-C-T
gnomAD v3: 12-64728992-C-T
gnomAD v4: 12-64728992-C-T
MyVariant Identifiers: chr12:g.65122772C>T (hg19) chr12:g.64728992C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.64728992C>T , CM000674.2:g.64728992C>T GRCh38
NC_000012.11:g.65122772C>T , CM000674.1:g.65122772C>T GRCh37
NC_000012.10:g.63409039C>T NCBI36
NG_008955.1:g.35455G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000258145.8:c.1164G>A MANE Select ENSP00000258145.3:p.Lys388=
ENST00000258145.7:c.1164G>A ENSP00000258145.3:p.Lys388=
ENST00000418919.6:c.996G>A ENSP00000413130.2:p.Lys332=
ENST00000537823.1:n.163G>A
ENST00000540196.5:c.557-5879G>A
ENST00000540883.1:n.227G>A
ENST00000541781.5:n.1219G>A
ENST00000542058.5:c.1104G>A ENSP00000444819.1:p.Lys368=
ENST00000543646.5:c.1260G>A ENSP00000438497.1:p.Lys420=
NM_002076.3:c.1164G>A NP_002067.1:p.Lys388=
NM_002076.4:c.1164G>A MANE Select NP_002067.1:p.Lys388=
Search 100 bp 5'
Search 100 bp 3'