Canonical Allele Identifier: CA2587946790

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7525194-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7525194C>G , CM000681.2:g.7525194C>G	GRCh38
NC_000019.9:g.7590080C>G , CM000681.1:g.7590080C>G	GRCh37
NC_000019.8:g.7496080C>G	NCBI36
NG_015806.1:g.7585C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.237+28C>G MANE Select	ENSP00000264079.5:n.237+28C>G
ENST00000264079.10:c.237+28C>G	ENSP00000264079.5:n.237+28C>G
ENST00000394321.9:n.317+28C>G
ENST00000596390.1:n.381C>G
ENST00000601003.1:c.237+28C>G	ENSP00000469074.1:n.237+28C>G
NM_020533.2:c.237+28C>G	NP_065394.1:n.237+28C>G
NM_020533.3:c.237+28C>G MANE Select	NP_065394.1:n.237+28C>G