Canonical Allele Identifier: CA238279658

Gene: GNS

Linked Data

• ClinVar Variation Id: 2968681
• ClinVar RCV Id: RCV003829327
• dbSNP Id: rs920034450
• gnomAD v4: 12-64728941-G-A
• MyVariant Identifiers: chr12:g.65122721G>A (hg19) ; chr12:g.64728941G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64728941G>A , CM000674.2:g.64728941G>A	GRCh38
NC_000012.11:g.65122721G>A , CM000674.1:g.65122721G>A	GRCh37
NC_000012.10:g.63408988G>A	NCBI36
NG_008955.1:g.35506C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258145.8:c.1200+15C>T MANE Select	ENSP00000258145.3:n.1200+15C>T
ENST00000258145.7:c.1200+15C>T	ENSP00000258145.3:n.1200+15C>T
ENST00000418919.6:c.1032+15C>T	ENSP00000413130.2:n.1032+15C>T
ENST00000537823.1:n.199+15C>T
ENST00000540196.5:c.557-5828C>T
ENST00000540883.1:n.263+15C>T
ENST00000541781.5:n.1255+15C>T
ENST00000542058.5:c.1140+15C>T	ENSP00000444819.1:n.1140+15C>T
ENST00000543646.5:c.1296+15C>T	ENSP00000438497.1:n.1296+15C>T
NM_002076.3:c.1200+15C>T	NP_002067.1:n.1200+15C>T
NM_002076.4:c.1200+15C>T MANE Select	NP_002067.1:n.1200+15C>T