Canonical Allele Identifier: CA385604281

Gene: GNS

Linked Data

• dbSNP Id: rs755021062
• gnomAD v4: 12-64729001-G-C
• MyVariant Identifiers: chr12:g.65122781G>C (hg19) ; chr12:g.64729001G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64729001G>C , CM000674.2:g.64729001G>C	GRCh38
NC_000012.11:g.65122781G>C , CM000674.1:g.65122781G>C	GRCh37
NC_000012.10:g.63409048G>C	NCBI36
NG_008955.1:g.35446C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000258145.8:c.1155C>G MANE Select	ENSP00000258145.3:p.Asp385Glu
ENST00000258145.7:c.1155C>G	ENSP00000258145.3:p.Asp385Glu
ENST00000418919.6:c.987C>G	ENSP00000413130.2:p.Asp329Glu
ENST00000537823.1:n.154C>G
ENST00000540196.5:c.557-5888C>G
ENST00000540883.1:n.218C>G
ENST00000541781.5:n.1210C>G
ENST00000542058.5:c.1095C>G	ENSP00000444819.1:p.Asp365Glu
ENST00000543646.5:c.1251C>G	ENSP00000438497.1:p.Asp417Glu
NM_002076.3:c.1155C>G	NP_002067.1:p.Asp385Glu
NM_002076.4:c.1155C>G MANE Select	NP_002067.1:p.Asp385Glu