Canonical Allele Identifier: CA9138983

Gene: MCOLN1

Linked Data

• dbSNP Id: rs370618602
• ExAC: 19:7593636 T / G
• gnomAD v2: 19-7593636-T-G
• gnomAD v3: 19-7528750-T-G
• gnomAD v4: 19-7528750-T-G
• MyVariant Identifiers: chr19:g.7593636T>G (hg19) ; chr19:g.7528750T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7528750T>G , CM000681.2:g.7528750T>G	GRCh38
NC_000019.9:g.7593636T>G , CM000681.1:g.7593636T>G	GRCh37
NC_000019.8:g.7499636T>G	NCBI36
NG_015806.1:g.11141T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.984+47T>G MANE Select	ENSP00000264079.5:n.984+47T>G
ENST00000264079.10:c.984+47T>G	ENSP00000264079.5:n.984+47T>G
ENST00000394321.9:n.1299+47T>G
ENST00000595860.5:n.97T>G
NM_020533.2:c.984+47T>G	NP_065394.1:n.984+47T>G
NM_020533.3:c.984+47T>G MANE Select	NP_065394.1:n.984+47T>G