Canonical Allele Identifier: CA993154575

Gene: MCOLN1

Linked Data

• dbSNP Id: rs2022604299
• gnomAD v3: 19-7528440-A-C
• gnomAD v4: 19-7528440-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7528440A>C , CM000681.2:g.7528440A>C	GRCh38
NC_000019.9:g.7593326A>C , CM000681.1:g.7593326A>C	GRCh37
NC_000019.8:g.7499326A>C	NCBI36
NG_015806.1:g.10831A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.878-157A>C MANE Select	ENSP00000264079.5:n.878-157A>C
ENST00000264079.10:c.878-157A>C	ENSP00000264079.5:n.878-157A>C
ENST00000394321.9:n.1193-157A>C
NM_020533.2:c.878-157A>C	NP_065394.1:n.878-157A>C
NM_020533.3:c.878-157A>C MANE Select	NP_065394.1:n.878-157A>C