Canonical Allele Identifier: CA505229732
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7591667G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526781G>A , CM000681.2:g.7526781G>A GRCh38
NC_000019.9:g.7591667G>A , CM000681.1:g.7591667G>A GRCh37
NC_000019.8:g.7497667G>A NCBI36
NG_015806.1:g.9172G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.426G>A MANE Select ENSP00000264079.5:p.Val142=
ENST00000264079.10:c.426G>A ENSP00000264079.5:p.Val142=
ENST00000394321.9:n.506G>A
ENST00000596008.1:n.388G>A
ENST00000598406.1:n.247G>A
ENST00000601003.1:c.426G>A ENSP00000469074.1:p.Val142=
NM_020533.2:c.426G>A NP_065394.1:p.Val142=
NM_020533.3:c.426G>A MANE Select NP_065394.1:p.Val142=