Canonical Allele Identifier: CA2619652398

Gene: GNS

Linked Data

• gnomAD v4: 12-64729106-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64729106C>G , CM000674.2:g.64729106C>G	GRCh38
NC_000012.11:g.65122886C>G , CM000674.1:g.65122886C>G	GRCh37
NC_000012.10:g.63409153C>G	NCBI36
NG_008955.1:g.35341G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258145.8:c.1099-49G>C MANE Select	ENSP00000258145.3:n.1099-49G>C
ENST00000258145.7:c.1099-49G>C	ENSP00000258145.3:n.1099-49G>C
ENST00000418919.6:c.931-49G>C	ENSP00000413130.2:n.931-49G>C
ENST00000537823.1:n.49G>C
ENST00000540196.5:c.557-5993G>C
ENST00000540883.1:n.113G>C
ENST00000541781.5:n.1154-49G>C
ENST00000542058.5:c.1039-49G>C	ENSP00000444819.1:n.1039-49G>C
ENST00000543646.5:c.1195-49G>C	ENSP00000438497.1:n.1195-49G>C
NM_002076.3:c.1099-49G>C	NP_002067.1:n.1099-49G>C
NM_002076.4:c.1099-49G>C MANE Select	NP_002067.1:n.1099-49G>C