Canonical Allele Identifier: CA2320962977

Gene: MCOLN1

Linked Data

• dbSNP Id: rs2022610582

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7528789G>C , CM000681.2:g.7528789G>C	GRCh38
NC_000019.9:g.7593675G>C , CM000681.1:g.7593675G>C	GRCh37
NC_000019.8:g.7499675G>C	NCBI36
NG_015806.1:g.11180G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.985-32G>C MANE Select	ENSP00000264079.5:n.985-32G>C
ENST00000264079.10:c.985-32G>C	ENSP00000264079.5:n.985-32G>C
ENST00000394321.9:n.1300-32G>C
ENST00000595860.5:n.136G>C
NM_020533.2:c.985-32G>C	NP_065394.1:n.985-32G>C
NM_020533.3:c.985-32G>C MANE Select	NP_065394.1:n.985-32G>C