Canonical Allele Identifier: CA385604277
Gene: GNS HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.65122780G>C (hg19) chr12:g.64729000G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.64729000G>C , CM000674.2:g.64729000G>C GRCh38
NC_000012.11:g.65122780G>C , CM000674.1:g.65122780G>C GRCh37
NC_000012.10:g.63409047G>C NCBI36
NG_008955.1:g.35447C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000258145.8:c.1156C>G MANE Select ENSP00000258145.3:p.Leu386Val
ENST00000258145.7:c.1156C>G ENSP00000258145.3:p.Leu386Val
ENST00000418919.6:c.988C>G ENSP00000413130.2:p.Leu330Val
ENST00000537823.1:n.155C>G
ENST00000540196.5:c.557-5887C>G
ENST00000540883.1:n.219C>G
ENST00000541781.5:n.1211C>G
ENST00000542058.5:c.1096C>G ENSP00000444819.1:p.Leu366Val
ENST00000543646.5:c.1252C>G ENSP00000438497.1:p.Leu418Val
NM_002076.3:c.1156C>G NP_002067.1:p.Leu386Val
NM_002076.4:c.1156C>G MANE Select NP_002067.1:p.Leu386Val
Search 100 bp 5'
Search 100 bp 3'