Canonical Allele Identifier: CA631462847

Gene: MCOLN1

Linked Data

• dbSNP Id: rs1427787479
• gnomAD v2: 19-7593024-C-T
• gnomAD v3: 19-7528138-C-T
• gnomAD v4: 19-7528138-C-T
• MyVariant Identifiers: chr19:g.7593024C>T (hg19) ; chr19:g.7528138C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7528138C>T , CM000681.2:g.7528138C>T	GRCh38
NC_000019.9:g.7593024C>T , CM000681.1:g.7593024C>T	GRCh37
NC_000019.8:g.7499024C>T	NCBI36
NG_015806.1:g.10529C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.778-20C>T MANE Select	ENSP00000264079.5:n.778-20C>T
ENST00000264079.10:c.778-20C>T	ENSP00000264079.5:n.778-20C>T
ENST00000394321.9:n.1093-20C>T
NM_020533.2:c.778-20C>T	NP_065394.1:n.778-20C>T
NM_020533.3:c.778-20C>T MANE Select	NP_065394.1:n.778-20C>T