Canonical Allele Identifier: CA385604413

Gene: GNS

Linked Data

• gnomAD v4: 12-64729030-G-T
• MyVariant Identifiers: chr12:g.65122810G>T (hg19) ; chr12:g.64729030G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64729030G>T , CM000674.2:g.64729030G>T	GRCh38
NC_000012.11:g.65122810G>T , CM000674.1:g.65122810G>T	GRCh37
NC_000012.10:g.63409077G>T	NCBI36
NG_008955.1:g.35417C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258145.8:c.1126C>A MANE Select	ENSP00000258145.3:p.Pro376Thr
ENST00000258145.7:c.1126C>A	ENSP00000258145.3:p.Pro376Thr
ENST00000418919.6:c.958C>A	ENSP00000413130.2:p.Pro320Thr
ENST00000537823.1:n.125C>A
ENST00000540196.5:c.557-5917C>A
ENST00000540883.1:n.189C>A
ENST00000541781.5:n.1181C>A
ENST00000542058.5:c.1066C>A	ENSP00000444819.1:p.Pro356Thr
ENST00000543646.5:c.1222C>A	ENSP00000438497.1:p.Pro408Thr
NM_002076.3:c.1126C>A	NP_002067.1:p.Pro376Thr
NM_002076.4:c.1126C>A MANE Select	NP_002067.1:p.Pro376Thr