Canonical Allele Identifier: CA403083977
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7527901-A-C
MyVariant Identifiers: chr19:g.7592787A>C (hg19) chr19:g.7527901A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527901A>C , CM000681.2:g.7527901A>C GRCh38
NC_000019.9:g.7592787A>C , CM000681.1:g.7592787A>C GRCh37
NC_000019.8:g.7498787A>C NCBI36
NG_015806.1:g.10292A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.718A>C MANE Select ENSP00000264079.5:p.Ile240Leu
ENST00000264079.10:c.718A>C ENSP00000264079.5:p.Ile240Leu
ENST00000394321.9:n.1033A>C
NM_020533.2:c.718A>C NP_065394.1:p.Ile240Leu
NM_020533.3:c.718A>C MANE Select NP_065394.1:p.Ile240Leu
Search 100 bp 5'
Search 100 bp 3'