Canonical Allele Identifier: CA480558147

Gene: GNS

Linked Data

• gnomAD v4: 12-64728956-C-T
• MyVariant Identifiers: chr12:g.65122736C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64728956C>T , CM000674.2:g.64728956C>T	GRCh38
NC_000012.11:g.65122736C>T , CM000674.1:g.65122736C>T	GRCh37
NC_000012.10:g.63409003C>T	NCBI36
NG_008955.1:g.35491G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258145.8:c.1200G>A MANE Select	ENSP00000258145.3:p.Leu400=
ENST00000258145.7:c.1200G>A	ENSP00000258145.3:p.Leu400=
ENST00000418919.6:c.1032G>A	ENSP00000413130.2:p.Leu344=
ENST00000537823.1:n.199G>A
ENST00000540196.5:c.557-5843G>A
ENST00000540883.1:n.263G>A
ENST00000541781.5:n.1255G>A
ENST00000542058.5:c.1140G>A	ENSP00000444819.1:p.Leu380=
ENST00000543646.5:c.1296G>A	ENSP00000438497.1:p.Leu432=
NM_002076.3:c.1200G>A	NP_002067.1:p.Leu400=
NM_002076.4:c.1200G>A MANE Select	NP_002067.1:p.Leu400=