Canonical Allele Identifier: CA2587946733

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7524878-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7524878G>A , CM000681.2:g.7524878G>A	GRCh38
NC_000019.9:g.7589764G>A , CM000681.1:g.7589764G>A	GRCh37
NC_000019.8:g.7495764G>A	NCBI36
NG_015806.1:g.7269G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.32-83G>A MANE Select	ENSP00000264079.5:n.32-83G>A
ENST00000264079.10:c.32-83G>A	ENSP00000264079.5:n.32-83G>A
ENST00000394321.9:n.112-83G>A
ENST00000596390.1:n.148-83G>A
ENST00000601003.1:c.32-83G>A	ENSP00000469074.1:n.32-83G>A
NM_020533.2:c.32-83G>A	NP_065394.1:n.32-83G>A
XR_936293.1:n.77C>T
XR_936294.1:n.77C>T
XR_936295.1:n.77C>T
XR_936293.2:n.103C>T
XR_936294.2:n.103C>T
NM_020533.3:c.32-83G>A MANE Select	NP_065394.1:n.32-83G>A