Canonical Allele Identifier: CA385604278

Gene: GNS

Linked Data

• gnomAD v4: 12-64729000-G-T
• MyVariant Identifiers: chr12:g.65122780G>T (hg19) ; chr12:g.64729000G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64729000G>T , CM000674.2:g.64729000G>T	GRCh38
NC_000012.11:g.65122780G>T , CM000674.1:g.65122780G>T	GRCh37
NC_000012.10:g.63409047G>T	NCBI36
NG_008955.1:g.35447C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258145.8:c.1156C>A MANE Select	ENSP00000258145.3:p.Leu386Ile
ENST00000258145.7:c.1156C>A	ENSP00000258145.3:p.Leu386Ile
ENST00000418919.6:c.988C>A	ENSP00000413130.2:p.Leu330Ile
ENST00000537823.1:n.155C>A
ENST00000540196.5:c.557-5887C>A
ENST00000540883.1:n.219C>A
ENST00000541781.5:n.1211C>A
ENST00000542058.5:c.1096C>A	ENSP00000444819.1:p.Leu366Ile
ENST00000543646.5:c.1252C>A	ENSP00000438497.1:p.Leu418Ile
NM_002076.3:c.1156C>A	NP_002067.1:p.Leu386Ile
NM_002076.4:c.1156C>A MANE Select	NP_002067.1:p.Leu386Ile