Canonical Allele Identifier: CA510163487
Gene: CST3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.23618341C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23637704C>G , CM000682.2:g.23637704C>G GRCh38
NC_000020.10:g.23618341C>G , CM000682.1:g.23618341C>G GRCh37
NC_000020.9:g.23566341C>G NCBI36
NG_012887.2:g.5234G>C
NG_012887.3:g.5234G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376925.8:c.159G>C MANE Select ENSP00000366124.3:p.Leu53=
ENST00000376925.7:c.159G>C ENSP00000366124.3:p.Leu53=
ENST00000398409.1:c.159G>C ENSP00000381446.1:p.Leu53=
ENST00000398411.5:c.159G>C ENSP00000381448.1:p.Leu53=
NM_000099.3:c.159G>C NP_000090.1:p.Leu53=
NM_001288614.1:c.159G>C NP_001275543.1:p.Leu53=
NM_000099.4:c.159G>C MANE Select NP_000090.1:p.Leu53=
NM_001288614.2:c.159G>C NP_001275543.1:p.Leu53=