Canonical Allele Identifier: CA2587946727

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7524868-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7524868T>C , CM000681.2:g.7524868T>C	GRCh38
NC_000019.9:g.7589754T>C , CM000681.1:g.7589754T>C	GRCh37
NC_000019.8:g.7495754T>C	NCBI36
NG_015806.1:g.7259T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.32-93T>C MANE Select	ENSP00000264079.5:n.32-93T>C
ENST00000264079.10:c.32-93T>C	ENSP00000264079.5:n.32-93T>C
ENST00000394321.9:n.112-93T>C
ENST00000596390.1:n.148-93T>C
ENST00000601003.1:c.32-93T>C	ENSP00000469074.1:n.32-93T>C
NM_020533.2:c.32-93T>C	NP_065394.1:n.32-93T>C
XR_936293.1:n.87A>G
XR_936294.1:n.87A>G
XR_936295.1:n.87A>G
XR_936293.2:n.113A>G
XR_936294.2:n.113A>G
NM_020533.3:c.32-93T>C MANE Select	NP_065394.1:n.32-93T>C