Canonical Allele Identifier: CA403084255
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7592826T>A (hg19) chr19:g.7527940T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527940T>A , CM000681.2:g.7527940T>A GRCh38
NC_000019.9:g.7592826T>A , CM000681.1:g.7592826T>A GRCh37
NC_000019.8:g.7498826T>A NCBI36
NG_015806.1:g.10331T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.757T>A MANE Select ENSP00000264079.5:p.Cys253Ser
ENST00000264079.10:c.757T>A ENSP00000264079.5:p.Cys253Ser
ENST00000394321.9:n.1072T>A
NM_020533.2:c.757T>A NP_065394.1:p.Cys253Ser
NM_020533.3:c.757T>A MANE Select NP_065394.1:p.Cys253Ser
Search 100 bp 5'
Search 100 bp 3'