Canonical Allele Identifier: CA385604203

Gene: GNS

Linked Data

• gnomAD v4: 12-64728983-C-T
• MyVariant Identifiers: chr12:g.65122763C>T (hg19) ; chr12:g.64728983C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64728983C>T , CM000674.2:g.64728983C>T	GRCh38
NC_000012.11:g.65122763C>T , CM000674.1:g.65122763C>T	GRCh37
NC_000012.10:g.63409030C>T	NCBI36
NG_008955.1:g.35464G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258145.8:c.1173G>A MANE Select	ENSP00000258145.3:p.Met391Ile
ENST00000258145.7:c.1173G>A	ENSP00000258145.3:p.Met391Ile
ENST00000418919.6:c.1005G>A	ENSP00000413130.2:p.Met335Ile
ENST00000537823.1:n.172G>A
ENST00000540196.5:c.557-5870G>A
ENST00000540883.1:n.236G>A
ENST00000541781.5:n.1228G>A
ENST00000542058.5:c.1113G>A	ENSP00000444819.1:p.Met371Ile
ENST00000543646.5:c.1269G>A	ENSP00000438497.1:p.Met423Ile
NM_002076.3:c.1173G>A	NP_002067.1:p.Met391Ile
NM_002076.4:c.1173G>A MANE Select	NP_002067.1:p.Met391Ile