Canonical Allele Identifier: CA2739276385
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2825531
ClinVar RCV Id: RCV003613845
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528714T>C , CM000681.2:g.7528714T>C GRCh38
NC_000019.9:g.7593600T>C , CM000681.1:g.7593600T>C GRCh37
NC_000019.8:g.7499600T>C NCBI36
NG_015806.1:g.11105T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.984+11T>C MANE Select ENSP00000264079.5:n.984+11T>C
ENST00000264079.10:c.984+11T>C ENSP00000264079.5:n.984+11T>C
ENST00000394321.9:n.1299+11T>C
ENST00000595860.5:n.61T>C
NM_020533.2:c.984+11T>C NP_065394.1:n.984+11T>C
NM_020533.3:c.984+11T>C MANE Select NP_065394.1:n.984+11T>C
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