Canonical Allele Identifier: CA403082199
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7592460T>C (hg19) chr19:g.7527574T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527574T>C , CM000681.2:g.7527574T>C GRCh38
NC_000019.9:g.7592460T>C , CM000681.1:g.7592460T>C GRCh37
NC_000019.8:g.7498460T>C NCBI36
NG_015806.1:g.9965T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.626T>C MANE Select ENSP00000264079.5:p.Leu209Pro
ENST00000264079.10:c.626T>C ENSP00000264079.5:p.Leu209Pro
ENST00000394321.9:n.706T>C
ENST00000598406.1:n.447T>C
ENST00000601003.1:c.572-290T>C ENSP00000469074.1:n.572-290T>C
NM_020533.2:c.626T>C NP_065394.1:p.Leu209Pro
NM_020533.3:c.626T>C MANE Select NP_065394.1:p.Leu209Pro
Search 100 bp 5'
Search 100 bp 3'