Canonical Allele Identifier: CA6669739
Gene: GNS HGNC NCBI

Linked Data

ClinVar Variation Id: 1155309
ClinVar RCV Id: RCV001497574 RCV001826336 RCV003900716
dbSNP Id: rs755021062
ExAC: 12:65122781 G / T
gnomAD v2: 12-65122781-G-T
gnomAD v3: 12-64729001-G-T
gnomAD v4: 12-64729001-G-T
MyVariant Identifiers: chr12:g.65122781G>T (hg19) chr12:g.64729001G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.64729001G>T , CM000674.2:g.64729001G>T GRCh38
NC_000012.11:g.65122781G>T , CM000674.1:g.65122781G>T GRCh37
NC_000012.10:g.63409048G>T NCBI36
NG_008955.1:g.35446C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000258145.8:c.1155C>A MANE Select ENSP00000258145.3:p.Asp385Glu
ENST00000258145.7:c.1155C>A ENSP00000258145.3:p.Asp385Glu
ENST00000418919.6:c.987C>A ENSP00000413130.2:p.Asp329Glu
ENST00000537823.1:n.154C>A
ENST00000540196.5:c.557-5888C>A
ENST00000540883.1:n.218C>A
ENST00000541781.5:n.1210C>A
ENST00000542058.5:c.1095C>A ENSP00000444819.1:p.Asp365Glu
ENST00000543646.5:c.1251C>A ENSP00000438497.1:p.Asp417Glu
NM_002076.3:c.1155C>A NP_002067.1:p.Asp385Glu
NM_002076.4:c.1155C>A MANE Select NP_002067.1:p.Asp385Glu
Search 100 bp 5'
Search 100 bp 3'