Canonical Allele Identifier: CA2320962815

Gene: MCOLN1

Linked Data

• dbSNP Id: rs1599254760

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7528457A>C , CM000681.2:g.7528457A>C	GRCh38
NC_000019.9:g.7593343A>C , CM000681.1:g.7593343A>C	GRCh37
NC_000019.8:g.7499343A>C	NCBI36
NG_015806.1:g.10848A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.878-140A>C MANE Select	ENSP00000264079.5:n.878-140A>C
ENST00000264079.10:c.878-140A>C	ENSP00000264079.5:n.878-140A>C
ENST00000394321.9:n.1193-140A>C
NM_020533.2:c.878-140A>C	NP_065394.1:n.878-140A>C
NM_020533.3:c.878-140A>C MANE Select	NP_065394.1:n.878-140A>C