Canonical Allele Identifier: CA385604270

Gene: GNS

Linked Data

• gnomAD v4: 12-64728997-T-C
• MyVariant Identifiers: chr12:g.65122777T>C (hg19) ; chr12:g.64728997T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64728997T>C , CM000674.2:g.64728997T>C	GRCh38
NC_000012.11:g.65122777T>C , CM000674.1:g.65122777T>C	GRCh37
NC_000012.10:g.63409044T>C	NCBI36
NG_008955.1:g.35450A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000258145.8:c.1159A>G MANE Select	ENSP00000258145.3:p.Asn387Asp
ENST00000258145.7:c.1159A>G	ENSP00000258145.3:p.Asn387Asp
ENST00000418919.6:c.991A>G	ENSP00000413130.2:p.Asn331Asp
ENST00000537823.1:n.158A>G
ENST00000540196.5:c.557-5884A>G
ENST00000540883.1:n.222A>G
ENST00000541781.5:n.1214A>G
ENST00000542058.5:c.1099A>G	ENSP00000444819.1:p.Asn367Asp
ENST00000543646.5:c.1255A>G	ENSP00000438497.1:p.Asn419Asp
NM_002076.3:c.1159A>G	NP_002067.1:p.Asn387Asp
NM_002076.4:c.1159A>G MANE Select	NP_002067.1:p.Asn387Asp