Canonical Allele Identifier: CA385604200

Gene: GNS

Linked Data

• MyVariant Identifiers: chr12:g.65122763C>A (hg19) ; chr12:g.64728983C>A (hg38)

Genomic Alleles

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

Transcript Alleles

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