Canonical Allele Identifier: CA480558177

Gene: GNS

Linked Data

• gnomAD v4: 12-64729007-G-T
• MyVariant Identifiers: chr12:g.65122787G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64729007G>T , CM000674.2:g.64729007G>T	GRCh38
NC_000012.11:g.65122787G>T , CM000674.1:g.65122787G>T	GRCh37
NC_000012.10:g.63409054G>T	NCBI36
NG_008955.1:g.35440C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258145.8:c.1149C>A MANE Select	ENSP00000258145.3:p.Gly383=
ENST00000258145.7:c.1149C>A	ENSP00000258145.3:p.Gly383=
ENST00000418919.6:c.981C>A	ENSP00000413130.2:p.Gly327=
ENST00000537823.1:n.148C>A
ENST00000540196.5:c.557-5894C>A
ENST00000540883.1:n.212C>A
ENST00000541781.5:n.1204C>A
ENST00000542058.5:c.1089C>A	ENSP00000444819.1:p.Gly363=
ENST00000543646.5:c.1245C>A	ENSP00000438497.1:p.Gly415=
NM_002076.3:c.1149C>A	NP_002067.1:p.Gly383=
NM_002076.4:c.1149C>A MANE Select	NP_002067.1:p.Gly383=