Canonical Allele Identifier: CA2587949972

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7529838-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529838C>G , CM000681.2:g.7529838C>G	GRCh38
NC_000019.9:g.7594724C>G , CM000681.1:g.7594724C>G	GRCh37
NC_000019.8:g.7500724C>G	NCBI36
NG_013374.1:g.687C>G
NG_015806.1:g.12229C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1359+126C>G MANE Select	ENSP00000264079.5:n.1359+126C>G
ENST00000264079.10:c.1359+126C>G	ENSP00000264079.5:n.1359+126C>G
ENST00000394321.9:n.1674+126C>G
ENST00000594692.1:n.355+126C>G
ENST00000595860.5:n.542+126C>G
ENST00000599334.1:c.236+126C>G
NM_020533.2:c.1359+126C>G	NP_065394.1:n.1359+126C>G
NM_020533.3:c.1359+126C>G MANE Select	NP_065394.1:n.1359+126C>G