Canonical Allele Identifier: CA403089062
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7595184T>A (hg19) chr19:g.7530298T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530298T>A , CM000681.2:g.7530298T>A GRCh38
NC_000019.9:g.7595184T>A , CM000681.1:g.7595184T>A GRCh37
NC_000019.8:g.7501184T>A NCBI36
NG_013374.1:g.1147T>A
NG_015806.1:g.12689T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1372T>A MANE Select ENSP00000264079.5:p.Ser458Thr
ENST00000264079.10:c.1372T>A ENSP00000264079.5:p.Ser458Thr
ENST00000394321.9:n.1687T>A
ENST00000594692.1:n.368T>A
ENST00000595860.5:n.555T>A
ENST00000599334.1:c.237-137T>A
NM_020533.2:c.1372T>A NP_065394.1:p.Ser458Thr
NM_020533.3:c.1372T>A MANE Select NP_065394.1:p.Ser458Thr
Search 100 bp 5'
Search 100 bp 3'