Canonical Allele Identifier: CA304853746

Gene: MCOLN1

Linked Data

• dbSNP Id: rs539688771
• gnomAD v2: 19-7592937-G-A
• gnomAD v3: 19-7528051-G-A
• gnomAD v4: 19-7528051-G-A
• MyVariant Identifiers: chr19:g.7592937G>A (hg19) ; chr19:g.7528051G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7528051G>A , CM000681.2:g.7528051G>A	GRCh38
NC_000019.9:g.7592937G>A , CM000681.1:g.7592937G>A	GRCh37
NC_000019.8:g.7498937G>A	NCBI36
NG_015806.1:g.10442G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.777+91G>A MANE Select	ENSP00000264079.5:n.777+91G>A
ENST00000264079.10:c.777+91G>A	ENSP00000264079.5:n.777+91G>A
ENST00000394321.9:n.1092+91G>A
NM_020533.2:c.777+91G>A	NP_065394.1:n.777+91G>A
NM_020533.3:c.777+91G>A MANE Select	NP_065394.1:n.777+91G>A