Canonical Allele Identifier: CA10643156

Gene: GNS

Linked Data

• ClinVar Variation Id: 310177
• ClinVar RCV Id: RCV000395310
• dbSNP Id: rs17100600
• gnomAD v2: 12-65108531-T-C
• gnomAD v3: 12-64714751-T-C
• gnomAD v4: 12-64714751-T-C
• MyVariant Identifiers: chr12:g.65108531T>C (hg19) ; chr12:g.64714751T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64714751T>C , CM000674.2:g.64714751T>C	GRCh38
NC_000012.11:g.65108531T>C , CM000674.1:g.65108531T>C	GRCh37
NC_000012.10:g.63394798T>C	NCBI36
NG_008955.1:g.49696A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258145.8:c.*1990A>G MANE Select	ENSP00000258145.3:n.*1990A>G
ENST00000258145.7:c.*1990A>G	ENSP00000258145.3:n.*1990A>G
ENST00000418919.6:c.*1990A>G	ENSP00000413130.2:n.*1990A>G
NM_002076.3:c.*1990A>G	NP_002067.1:n.*1990A>G
NM_002076.4:c.*1990A>G MANE Select	NP_002067.1:n.*1990A>G