Canonical Allele Identifier: CA2587948515

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7528013-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7528013G>C , CM000681.2:g.7528013G>C	GRCh38
NC_000019.9:g.7592899G>C , CM000681.1:g.7592899G>C	GRCh37
NC_000019.8:g.7498899G>C	NCBI36
NG_015806.1:g.10404G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.777+53G>C MANE Select	ENSP00000264079.5:n.777+53G>C
ENST00000264079.10:c.777+53G>C	ENSP00000264079.5:n.777+53G>C
ENST00000394321.9:n.1092+53G>C
NM_020533.2:c.777+53G>C	NP_065394.1:n.777+53G>C
NM_020533.3:c.777+53G>C MANE Select	NP_065394.1:n.777+53G>C