Canonical Allele Identifier: CA403152555
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2224188
ClinVar RCV Id: RCV002673844
MyVariant Identifiers: chr19:g.7589915A>C (hg19) chr19:g.7525029A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525029A>C , CM000681.2:g.7525029A>C GRCh38
NC_000019.9:g.7589915A>C , CM000681.1:g.7589915A>C GRCh37
NC_000019.8:g.7495915A>C NCBI36
NG_015806.1:g.7420A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.100A>C MANE Select ENSP00000264079.5:p.Thr34Pro
ENST00000264079.10:c.100A>C ENSP00000264079.5:p.Thr34Pro
ENST00000394321.9:n.180A>C
ENST00000596390.1:n.216A>C
ENST00000601003.1:c.100A>C ENSP00000469074.1:p.Thr34Pro
NM_020533.2:c.100A>C NP_065394.1:p.Thr34Pro
NM_020533.3:c.100A>C MANE Select NP_065394.1:p.Thr34Pro
Search 100 bp 5'
Search 100 bp 3'