Canonical Allele Identifier: CA10638349

Gene: GNS

Linked Data

• ClinVar Variation Id: 310202
• ClinVar RCV Id: RCV000358700 ; RCV001660617
• dbSNP Id: rs2279597
• gnomAD v2: 12-65110252-G-A
• gnomAD v3: 12-64716472-G-A
• gnomAD v4: 12-64716472-G-A
• MyVariant Identifiers: chr12:g.65110252G>A (hg19) ; chr12:g.64716472G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64716472G>A , CM000674.2:g.64716472G>A	GRCh38
NC_000012.11:g.65110252G>A , CM000674.1:g.65110252G>A	GRCh37
NC_000012.10:g.63396519G>A	NCBI36
NG_008955.1:g.47975C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258145.8:c.*269C>T MANE Select	ENSP00000258145.3:n.*269C>T
ENST00000258145.7:c.*269C>T	ENSP00000258145.3:n.*269C>T
ENST00000418919.6:c.*269C>T	ENSP00000413130.2:n.*269C>T
ENST00000543646.5:c.*269C>T	ENSP00000438497.1:n.*269C>T
NM_002076.3:c.*269C>T	NP_002067.1:n.*269C>T
NM_002076.4:c.*269C>T MANE Select	NP_002067.1:n.*269C>T