Canonical Allele Identifier: CA505232020
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7589899T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525013T>A , CM000681.2:g.7525013T>A GRCh38
NC_000019.9:g.7589899T>A , CM000681.1:g.7589899T>A GRCh37
NC_000019.8:g.7495899T>A NCBI36
NG_015806.1:g.7404T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.84T>A MANE Select ENSP00000264079.5:p.Pro28=
ENST00000264079.10:c.84T>A ENSP00000264079.5:p.Pro28=
ENST00000394321.9:n.164T>A
ENST00000596390.1:n.200T>A
ENST00000601003.1:c.84T>A ENSP00000469074.1:p.Pro28=
NM_020533.2:c.84T>A NP_065394.1:p.Pro28=
NM_020533.3:c.84T>A MANE Select NP_065394.1:p.Pro28=