Canonical Allele Identifier: CA385604244
Gene: GNS HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.65122773T>C (hg19) chr12:g.64728993T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.64728993T>C , CM000674.2:g.64728993T>C GRCh38
NC_000012.11:g.65122773T>C , CM000674.1:g.65122773T>C GRCh37
NC_000012.10:g.63409040T>C NCBI36
NG_008955.1:g.35454A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000258145.8:c.1163A>G MANE Select ENSP00000258145.3:p.Lys388Arg
ENST00000258145.7:c.1163A>G ENSP00000258145.3:p.Lys388Arg
ENST00000418919.6:c.995A>G ENSP00000413130.2:p.Lys332Arg
ENST00000537823.1:n.162A>G
ENST00000540196.5:c.557-5880A>G
ENST00000540883.1:n.226A>G
ENST00000541781.5:n.1218A>G
ENST00000542058.5:c.1103A>G ENSP00000444819.1:p.Lys368Arg
ENST00000543646.5:c.1259A>G ENSP00000438497.1:p.Lys420Arg
NM_002076.3:c.1163A>G NP_002067.1:p.Lys388Arg
NM_002076.4:c.1163A>G MANE Select NP_002067.1:p.Lys388Arg
Search 100 bp 5'
Search 100 bp 3'