Canonical Allele Identifier: CA2587946736
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7524881-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7524881T>A , CM000681.2:g.7524881T>A GRCh38
NC_000019.9:g.7589767T>A , CM000681.1:g.7589767T>A GRCh37
NC_000019.8:g.7495767T>A NCBI36
NG_015806.1:g.7272T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.32-80T>A MANE Select ENSP00000264079.5:n.32-80T>A
ENST00000264079.10:c.32-80T>A ENSP00000264079.5:n.32-80T>A
ENST00000394321.9:n.112-80T>A
ENST00000596390.1:n.148-80T>A
ENST00000601003.1:c.32-80T>A ENSP00000469074.1:n.32-80T>A
NM_020533.2:c.32-80T>A NP_065394.1:n.32-80T>A
XR_936293.1:n.74A>T
XR_936294.1:n.74A>T
XR_936295.1:n.74A>T
XR_936293.2:n.100A>T
XR_936294.2:n.100A>T
NM_020533.3:c.32-80T>A MANE Select NP_065394.1:n.32-80T>A