Canonical Allele Identifier: CA2320962564
Gene: MCOLN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527900C= , CM000681.2:g.7527900C= GRCh38
NC_000019.9:g.7592786C= , CM000681.1:g.7592786C= GRCh37
NC_000019.8:g.7498786C= NCBI36
NG_015806.1:g.10291C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.717C= MANE Select ENSP00000264079.5:p.Thr239=
ENST00000264079.10:c.717C= ENSP00000264079.5:p.Thr239=
ENST00000394321.9:n.1032C=
NM_020533.2:c.717C= NP_065394.1:p.Thr239=
NM_020533.3:c.717C= MANE Select NP_065394.1:p.Thr239=
Search 100 bp 5'
Search 100 bp 3'