Canonical Allele Identifier: CA2587946267
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7522612-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7522612C>T , CM000681.2:g.7522612C>T GRCh38
NC_000019.9:g.7587498C>T , CM000681.1:g.7587498C>T GRCh37
NC_000019.8:g.7493498C>T NCBI36
NG_015806.1:g.5003C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020533.2:c.-139C>T NP_065394.1:n.-139C>T
XR_936293.1:n.926+230G>A
XR_936294.1:n.926+230G>A
XR_936295.1:n.570+230G>A
XR_936293.2:n.952+230G>A
XR_936294.2:n.952+230G>A