Canonical Allele Identifier: CA385609155

Gene: GNS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64743251T>C , CM000674.2:g.64743251T>C	GRCh38
NC_000012.11:g.65137031T>C , CM000674.1:g.65137031T>C	GRCh37
NC_000012.10:g.63423298T>C	NCBI36
NG_008955.1:g.21196A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002076.4:c.682A>G MANE Select	NP_002067.1:p.Met228Val
ENST00000258145.8:c.682A>G MANE Select	ENSP00000258145.3:p.Met228Val
NM_002076.3:c.682A>G	NP_002067.1:p.Met228Val
ENST00000258145.7:c.682A>G	ENSP00000258145.3:p.Met228Val
ENST00000418919.6:c.514A>G	ENSP00000413130.2:p.Met172Val
ENST00000540196.5:c.140A>G
ENST00000541781.5:n.737A>G
ENST00000542058.5:c.622A>G	ENSP00000444819.1:p.Met208Val
ENST00000543646.5:c.778A>G	ENSP00000438497.1:p.Met260Val
ENST00000545273.1:c.454A>G	ENSP00000445055.1:p.Met152Val