Canonical Allele Identifier: CA304853924

Gene: MCOLN1

Linked Data

• dbSNP Id: rs565687260
• gnomAD v2: 19-7593219-C-T
• gnomAD v3: 19-7528333-C-T
• gnomAD v4: 19-7528333-C-T
• MyVariant Identifiers: chr19:g.7593219C>T (hg19) ; chr19:g.7528333C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7528333C>T , CM000681.2:g.7528333C>T	GRCh38
NC_000019.9:g.7593219C>T , CM000681.1:g.7593219C>T	GRCh37
NC_000019.8:g.7499219C>T	NCBI36
NG_015806.1:g.10724C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.877+76C>T MANE Select	ENSP00000264079.5:n.877+76C>T
ENST00000264079.10:c.877+76C>T	ENSP00000264079.5:n.877+76C>T
ENST00000394321.9:n.1192+76C>T
NM_020533.2:c.877+76C>T	NP_065394.1:n.877+76C>T
NM_020533.3:c.877+76C>T MANE Select	NP_065394.1:n.877+76C>T