Canonical Allele Identifier: CA2587948549

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7528072-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7528075dup , CM000681.2:g.7528075dup	GRCh38
NC_000019.9:g.7592961dup , CM000681.1:g.7592961dup	GRCh37
NC_000019.8:g.7498961dup	NCBI36
NG_015806.1:g.10466dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.778-83dup MANE Select	ENSP00000264079.5:n.778-83dup
ENST00000264079.10:c.778-83dup	ENSP00000264079.5:n.778-83dup
ENST00000394321.9:n.1093-83dup
NM_020533.2:c.778-83dup	NP_065394.1:n.778-83dup
NM_020533.3:c.778-83dup MANE Select	NP_065394.1:n.778-83dup