Canonical Allele Identifier: CA505403353
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7593718G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528832G>A , CM000681.2:g.7528832G>A GRCh38
NC_000019.9:g.7593718G>A , CM000681.1:g.7593718G>A GRCh37
NC_000019.8:g.7499718G>A NCBI36
NG_015806.1:g.11223G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.996G>A MANE Select ENSP00000264079.5:p.Gly332=
ENST00000264079.10:c.996G>A ENSP00000264079.5:p.Gly332=
ENST00000394321.9:n.1311G>A
ENST00000595860.5:n.179G>A
NM_020533.2:c.996G>A NP_065394.1:p.Gly332=
NM_020533.3:c.996G>A MANE Select NP_065394.1:p.Gly332=