Canonical Allele Identifier: CA631462635
Gene: MCOLN1 HGNC NCBI

Linked Data

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

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

Transcript Alleles

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