Canonical Allele Identifier: CA238287100

Gene: GNS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64739407T>C , CM000674.2:g.64739407T>C	GRCh38
NC_000012.11:g.65133187T>C , CM000674.1:g.65133187T>C	GRCh37
NC_000012.10:g.63419454T>C	NCBI36
NG_008955.1:g.25040A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002076.4:c.968A>G MANE Select	NP_002067.1:p.Tyr323Cys
ENST00000258145.8:c.968A>G MANE Select	ENSP00000258145.3:p.Tyr323Cys
NM_002076.3:c.968A>G	NP_002067.1:p.Tyr323Cys
ENST00000258145.7:c.968A>G	ENSP00000258145.3:p.Tyr323Cys
ENST00000418919.6:c.800A>G	ENSP00000413130.2:p.Tyr267Cys
ENST00000540196.5:c.426A>G
ENST00000541781.5:n.1023A>G
ENST00000542058.5:c.908A>G	ENSP00000444819.1:p.Tyr303Cys
ENST00000543646.5:c.1064A>G	ENSP00000438497.1:p.Tyr355Cys
ENST00000545273.1:c.740A>G	ENSP00000445055.1:p.Tyr247Cys