Canonical Allele Identifier: CA2587946728
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7524869-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7524869G>T , CM000681.2:g.7524869G>T GRCh38
NC_000019.9:g.7589755G>T , CM000681.1:g.7589755G>T GRCh37
NC_000019.8:g.7495755G>T NCBI36
NG_015806.1:g.7260G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.32-92G>T MANE Select ENSP00000264079.5:n.32-92G>T
ENST00000264079.10:c.32-92G>T ENSP00000264079.5:n.32-92G>T
ENST00000394321.9:n.112-92G>T
ENST00000596390.1:n.148-92G>T
ENST00000601003.1:c.32-92G>T ENSP00000469074.1:n.32-92G>T
NM_020533.2:c.32-92G>T NP_065394.1:n.32-92G>T
XR_936293.1:n.86C>A
XR_936294.1:n.86C>A
XR_936295.1:n.86C>A
XR_936293.2:n.112C>A
XR_936294.2:n.112C>A
NM_020533.3:c.32-92G>T MANE Select NP_065394.1:n.32-92G>T