Canonical Allele Identifier: CA403152991
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7590032A>C (hg19) chr19:g.7525146A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525146A>C , CM000681.2:g.7525146A>C GRCh38
NC_000019.9:g.7590032A>C , CM000681.1:g.7590032A>C GRCh37
NC_000019.8:g.7496032A>C NCBI36
NG_015806.1:g.7537A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.217A>C MANE Select ENSP00000264079.5:p.Ile73Leu
ENST00000264079.10:c.217A>C ENSP00000264079.5:p.Ile73Leu
ENST00000394321.9:n.297A>C
ENST00000596390.1:n.333A>C
ENST00000601003.1:c.217A>C ENSP00000469074.1:p.Ile73Leu
NM_020533.2:c.217A>C NP_065394.1:p.Ile73Leu
NM_020533.3:c.217A>C MANE Select NP_065394.1:p.Ile73Leu
Search 100 bp 5'
Search 100 bp 3'