Canonical Allele Identifier: CA2587946265
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7522610-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7522610C>T , CM000681.2:g.7522610C>T GRCh38
NC_000019.9:g.7587496C>T , CM000681.1:g.7587496C>T GRCh37
NC_000019.8:g.7493496C>T NCBI36
NG_015806.1:g.5001C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020533.2:c.-141C>T NP_065394.1:n.-141C>T
XR_936293.1:n.926+232G>A
XR_936294.1:n.926+232G>A
XR_936295.1:n.570+232G>A
XR_936293.2:n.952+232G>A
XR_936294.2:n.952+232G>A