Canonical Allele Identifier: CA385604190

Gene: GNS

Linked Data

• MyVariant Identifiers: chr12:g.65122761T>G (hg19) ; chr12:g.64728981T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64728981T>G , CM000674.2:g.64728981T>G	GRCh38
NC_000012.11:g.65122761T>G , CM000674.1:g.65122761T>G	GRCh37
NC_000012.10:g.63409028T>G	NCBI36
NG_008955.1:g.35466A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258145.8:c.1175A>C MANE Select	ENSP00000258145.3:p.Asp392Ala
ENST00000258145.7:c.1175A>C	ENSP00000258145.3:p.Asp392Ala
ENST00000418919.6:c.1007A>C	ENSP00000413130.2:p.Asp336Ala
ENST00000537823.1:n.174A>C
ENST00000540196.5:c.557-5868A>C
ENST00000540883.1:n.238A>C
ENST00000541781.5:n.1230A>C
ENST00000542058.5:c.1115A>C	ENSP00000444819.1:p.Asp372Ala
ENST00000543646.5:c.1271A>C	ENSP00000438497.1:p.Asp424Ala
NM_002076.3:c.1175A>C	NP_002067.1:p.Asp392Ala
NM_002076.4:c.1175A>C MANE Select	NP_002067.1:p.Asp392Ala