Canonical Allele Identifier: CA505230114
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7591743C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526857C>A , CM000681.2:g.7526857C>A GRCh38
NC_000019.9:g.7591743C>A , CM000681.1:g.7591743C>A GRCh37
NC_000019.8:g.7497743C>A NCBI36
NG_015806.1:g.9248C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.502C>A MANE Select ENSP00000264079.5:p.Arg168=
ENST00000264079.10:c.502C>A ENSP00000264079.5:p.Arg168=
ENST00000394321.9:n.582C>A
ENST00000596008.1:n.464C>A
ENST00000598406.1:n.323C>A
ENST00000601003.1:c.502C>A ENSP00000469074.1:p.Arg168=
NM_020533.2:c.502C>A NP_065394.1:p.Arg168=
NM_020533.3:c.502C>A MANE Select NP_065394.1:p.Arg168=
Search 100 bp 5'
Search 100 bp 3'