Canonical Allele Identifier: CA2575214187

Gene: GNS

Linked Data

• gnomAD v4: 12-64728935-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64728935G>T , CM000674.2:g.64728935G>T	GRCh38
NC_000012.11:g.65122715G>T , CM000674.1:g.65122715G>T	GRCh37
NC_000012.10:g.63408982G>T	NCBI36
NG_008955.1:g.35512C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258145.8:c.1200+21C>A MANE Select	ENSP00000258145.3:n.1200+21C>A
ENST00000258145.7:c.1200+21C>A	ENSP00000258145.3:n.1200+21C>A
ENST00000418919.6:c.1032+21C>A	ENSP00000413130.2:n.1032+21C>A
ENST00000537823.1:n.199+21C>A
ENST00000540196.5:c.557-5822C>A
ENST00000540883.1:n.263+21C>A
ENST00000541781.5:n.1255+21C>A
ENST00000542058.5:c.1140+21C>A	ENSP00000444819.1:n.1140+21C>A
ENST00000543646.5:c.1296+21C>A	ENSP00000438497.1:n.1296+21C>A
NM_002076.3:c.1200+21C>A	NP_002067.1:n.1200+21C>A
NM_002076.4:c.1200+21C>A MANE Select	NP_002067.1:n.1200+21C>A