Canonical Allele Identifier: CA505230731
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7592789T>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527903T>A , CM000681.2:g.7527903T>A GRCh38
NC_000019.9:g.7592789T>A , CM000681.1:g.7592789T>A GRCh37
NC_000019.8:g.7498789T>A NCBI36
NG_015806.1:g.10294T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.720T>A MANE Select ENSP00000264079.5:p.Ile240=
ENST00000264079.10:c.720T>A ENSP00000264079.5:p.Ile240=
ENST00000394321.9:n.1035T>A
NM_020533.2:c.720T>A NP_065394.1:p.Ile240=
NM_020533.3:c.720T>A MANE Select NP_065394.1:p.Ile240=
Search 100 bp 5'
Search 100 bp 3'