Canonical Allele Identifier: CA385604336

Gene: GNS

Linked Data

• MyVariant Identifiers: chr12:g.65122794A>C (hg19) ; chr12:g.64729014A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64729014A>C , CM000674.2:g.64729014A>C	GRCh38
NC_000012.11:g.65122794A>C , CM000674.1:g.65122794A>C	GRCh37
NC_000012.10:g.63409061A>C	NCBI36
NG_008955.1:g.35433T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258145.8:c.1142T>G MANE Select	ENSP00000258145.3:p.Ile381Ser
ENST00000258145.7:c.1142T>G	ENSP00000258145.3:p.Ile381Ser
ENST00000418919.6:c.974T>G	ENSP00000413130.2:p.Ile325Ser
ENST00000537823.1:n.141T>G
ENST00000540196.5:c.557-5901T>G
ENST00000540883.1:n.205T>G
ENST00000541781.5:n.1197T>G
ENST00000542058.5:c.1082T>G	ENSP00000444819.1:p.Ile361Ser
ENST00000543646.5:c.1238T>G	ENSP00000438497.1:p.Ile413Ser
NM_002076.3:c.1142T>G	NP_002067.1:p.Ile381Ser
NM_002076.4:c.1142T>G MANE Select	NP_002067.1:p.Ile381Ser