Canonical Allele Identifier: CA385604286

Gene: GNS

Linked Data

• dbSNP Id: rs1852299573
• gnomAD v3: 12-64729002-T-A
• gnomAD v4: 12-64729002-T-A
• MyVariant Identifiers: chr12:g.65122782T>A (hg19) ; chr12:g.64729002T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64729002T>A , CM000674.2:g.64729002T>A	GRCh38
NC_000012.11:g.65122782T>A , CM000674.1:g.65122782T>A	GRCh37
NC_000012.10:g.63409049T>A	NCBI36
NG_008955.1:g.35445A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258145.8:c.1154A>T MANE Select	ENSP00000258145.3:p.Asp385Val
ENST00000258145.7:c.1154A>T	ENSP00000258145.3:p.Asp385Val
ENST00000418919.6:c.986A>T	ENSP00000413130.2:p.Asp329Val
ENST00000537823.1:n.153A>T
ENST00000540196.5:c.557-5889A>T
ENST00000540883.1:n.217A>T
ENST00000541781.5:n.1209A>T
ENST00000542058.5:c.1094A>T	ENSP00000444819.1:p.Asp365Val
ENST00000543646.5:c.1250A>T	ENSP00000438497.1:p.Asp417Val
NM_002076.3:c.1154A>T	NP_002067.1:p.Asp385Val
NM_002076.4:c.1154A>T MANE Select	NP_002067.1:p.Asp385Val