Canonical Allele Identifier: CA690938285

Gene: GNS

Linked Data

• dbSNP Id: rs1463847053
• gnomAD v3: 12-64729103-T-C
• gnomAD v4: 12-64729103-T-C
• MyVariant Identifiers: chr12:g.65122883T>C (hg19) ; chr12:g.64729103T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64729103T>C , CM000674.2:g.64729103T>C	GRCh38
NC_000012.11:g.65122883T>C , CM000674.1:g.65122883T>C	GRCh37
NC_000012.10:g.63409150T>C	NCBI36
NG_008955.1:g.35344A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258145.8:c.1099-46A>G MANE Select	ENSP00000258145.3:n.1099-46A>G
ENST00000258145.7:c.1099-46A>G	ENSP00000258145.3:n.1099-46A>G
ENST00000418919.6:c.931-46A>G	ENSP00000413130.2:n.931-46A>G
ENST00000537823.1:n.52A>G
ENST00000540196.5:c.557-5990A>G
ENST00000540883.1:n.116A>G
ENST00000541781.5:n.1154-46A>G
ENST00000542058.5:c.1039-46A>G	ENSP00000444819.1:n.1039-46A>G
ENST00000543646.5:c.1195-46A>G	ENSP00000438497.1:n.1195-46A>G
NM_002076.3:c.1099-46A>G	NP_002067.1:n.1099-46A>G
NM_002076.4:c.1099-46A>G MANE Select	NP_002067.1:n.1099-46A>G