Canonical Allele Identifier: CA403083979
Gene: MCOLN1 HGNC NCBI

Linked Data

COSMIC: COSM5955675
MyVariant Identifiers: chr19:g.7592788T>C (hg19) chr19:g.7527902T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527902T>C , CM000681.2:g.7527902T>C GRCh38
NC_000019.9:g.7592788T>C , CM000681.1:g.7592788T>C GRCh37
NC_000019.8:g.7498788T>C NCBI36
NG_015806.1:g.10293T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.719T>C MANE Select ENSP00000264079.5:p.Ile240Thr
ENST00000264079.10:c.719T>C ENSP00000264079.5:p.Ile240Thr
ENST00000394321.9:n.1034T>C
NM_020533.2:c.719T>C NP_065394.1:p.Ile240Thr
NM_020533.3:c.719T>C MANE Select NP_065394.1:p.Ile240Thr
Search 100 bp 5'
Search 100 bp 3'