Canonical Allele Identifier: CA2320961203

Gene: MCOLN1

Linked Data

• dbSNP Id: rs2022552219
• gnomAD v4: 19-7525207-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7525207G>C , CM000681.2:g.7525207G>C	GRCh38
NC_000019.9:g.7590093G>C , CM000681.1:g.7590093G>C	GRCh37
NC_000019.8:g.7496093G>C	NCBI36
NG_015806.1:g.7598G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.237+41G>C MANE Select	ENSP00000264079.5:n.237+41G>C
ENST00000264079.10:c.237+41G>C	ENSP00000264079.5:n.237+41G>C
ENST00000394321.9:n.317+41G>C
ENST00000596390.1:n.394G>C
ENST00000601003.1:c.237+41G>C	ENSP00000469074.1:n.237+41G>C
NM_020533.2:c.237+41G>C	NP_065394.1:n.237+41G>C
NM_020533.3:c.237+41G>C MANE Select	NP_065394.1:n.237+41G>C