Canonical Allele Identifier: CA9139045
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs542507102
ExAC: 19:7593900 G / C
gnomAD v2: 19-7593900-G-C
gnomAD v3: 19-7529014-G-C
gnomAD v4: 19-7529014-G-C
MyVariant Identifiers: chr19:g.7593900G>C (hg19) chr19:g.7529014G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529014G>C , CM000681.2:g.7529014G>C GRCh38
NC_000019.9:g.7593900G>C , CM000681.1:g.7593900G>C GRCh37
NC_000019.8:g.7499900G>C NCBI36
NG_015806.1:g.11405G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1134+44G>C MANE Select ENSP00000264079.5:n.1134+44G>C
ENST00000264079.10:c.1134+44G>C ENSP00000264079.5:n.1134+44G>C
ENST00000394321.9:n.1449+44G>C
ENST00000594692.1:n.44G>C
ENST00000595860.5:n.317+44G>C
ENST00000599334.1:c.11+44G>C
NM_020533.2:c.1134+44G>C NP_065394.1:n.1134+44G>C
NM_020533.3:c.1134+44G>C MANE Select NP_065394.1:n.1134+44G>C
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