Canonical Allele Identifier: CA403081404

Gene: MCOLN1

Linked Data

• dbSNP Id: rs1454377544
• gnomAD v2: 19-7591717-A-G
• gnomAD v4: 19-7526831-A-G
• MyVariant Identifiers: chr19:g.7591717A>G (hg19) ; chr19:g.7526831A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7526831A>G , CM000681.2:g.7526831A>G	GRCh38
NC_000019.9:g.7591717A>G , CM000681.1:g.7591717A>G	GRCh37
NC_000019.8:g.7497717A>G	NCBI36
NG_015806.1:g.9222A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.476A>G MANE Select	ENSP00000264079.5:p.Asn159Ser
ENST00000264079.10:c.476A>G	ENSP00000264079.5:p.Asn159Ser
ENST00000394321.9:n.556A>G
ENST00000596008.1:n.438A>G
ENST00000598406.1:n.297A>G
ENST00000601003.1:c.476A>G	ENSP00000469074.1:p.Asn159Ser
NM_020533.2:c.476A>G	NP_065394.1:p.Asn159Ser
NM_020533.3:c.476A>G MANE Select	NP_065394.1:p.Asn159Ser