Canonical Allele Identifier: CA238279746
Gene: GNS HGNC NCBI

Linked Data

ClinVar Variation Id: 1519948
ClinVar RCV Id: RCV002024852
dbSNP Id: rs944030718
gnomAD v2: 12-65122770-G-A
gnomAD v4: 12-64728990-G-A
MyVariant Identifiers: chr12:g.65122770G>A (hg19) chr12:g.64728990G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.64728990G>A , CM000674.2:g.64728990G>A GRCh38
NC_000012.11:g.65122770G>A , CM000674.1:g.65122770G>A GRCh37
NC_000012.10:g.63409037G>A NCBI36
NG_008955.1:g.35457C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000258145.8:c.1166C>T MANE Select ENSP00000258145.3:p.Thr389Ile
ENST00000258145.7:c.1166C>T ENSP00000258145.3:p.Thr389Ile
ENST00000418919.6:c.998C>T ENSP00000413130.2:p.Thr333Ile
ENST00000537823.1:n.165C>T
ENST00000540196.5:c.557-5877C>T
ENST00000540883.1:n.229C>T
ENST00000541781.5:n.1221C>T
ENST00000542058.5:c.1106C>T ENSP00000444819.1:p.Thr369Ile
ENST00000543646.5:c.1262C>T ENSP00000438497.1:p.Thr421Ile
NM_002076.3:c.1166C>T NP_002067.1:p.Thr389Ile
NM_002076.4:c.1166C>T MANE Select NP_002067.1:p.Thr389Ile
Search 100 bp 5'
Search 100 bp 3'