Canonical Allele Identifier: CA2587948831

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7529002-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529002C>G , CM000681.2:g.7529002C>G	GRCh38
NC_000019.9:g.7593888C>G , CM000681.1:g.7593888C>G	GRCh37
NC_000019.8:g.7499888C>G	NCBI36
NG_015806.1:g.11393C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1134+32C>G MANE Select	ENSP00000264079.5:n.1134+32C>G
ENST00000264079.10:c.1134+32C>G	ENSP00000264079.5:n.1134+32C>G
ENST00000394321.9:n.1449+32C>G
ENST00000594692.1:n.32C>G
ENST00000595860.5:n.317+32C>G
ENST00000599334.1:c.11+32C>G
NM_020533.2:c.1134+32C>G	NP_065394.1:n.1134+32C>G
NM_020533.3:c.1134+32C>G MANE Select	NP_065394.1:n.1134+32C>G