Canonical Allele Identifier: CA403084158

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7592816G>C (hg19) ; chr19:g.7527930G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527930G>C , CM000681.2:g.7527930G>C	GRCh38
NC_000019.9:g.7592816G>C , CM000681.1:g.7592816G>C	GRCh37
NC_000019.8:g.7498816G>C	NCBI36
NG_015806.1:g.10321G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.747G>C MANE Select	ENSP00000264079.5:p.Glu249Asp
ENST00000264079.10:c.747G>C	ENSP00000264079.5:p.Glu249Asp
ENST00000394321.9:n.1062G>C
NM_020533.2:c.747G>C	NP_065394.1:p.Glu249Asp
NM_020533.3:c.747G>C MANE Select	NP_065394.1:p.Glu249Asp