Canonical Allele Identifier: CA304853008
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs968397980
gnomAD v4: 19-7527050-G-A
MyVariant Identifiers: chr19:g.7591936G>A (hg19) chr19:g.7527050G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527050G>A , CM000681.2:g.7527050G>A GRCh38
NC_000019.9:g.7591936G>A , CM000681.1:g.7591936G>A GRCh37
NC_000019.8:g.7497936G>A NCBI36
NG_015806.1:g.9441G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.571+124G>A MANE Select ENSP00000264079.5:n.571+124G>A
ENST00000264079.10:c.571+124G>A ENSP00000264079.5:n.571+124G>A
ENST00000394321.9:n.651+124G>A
ENST00000596008.1:n.657G>A
ENST00000598406.1:n.392+124G>A
ENST00000601003.1:c.571+124G>A ENSP00000469074.1:n.571+124G>A
NM_020533.2:c.571+124G>A NP_065394.1:n.571+124G>A
NM_020533.3:c.571+124G>A MANE Select NP_065394.1:n.571+124G>A
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