Canonical Allele Identifier: CA403084020
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7592797A>C (hg19) chr19:g.7527911A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527911A>C , CM000681.2:g.7527911A>C GRCh38
NC_000019.9:g.7592797A>C , CM000681.1:g.7592797A>C GRCh37
NC_000019.8:g.7498797A>C NCBI36
NG_015806.1:g.10302A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.728A>C MANE Select ENSP00000264079.5:p.Gln243Pro
ENST00000264079.10:c.728A>C ENSP00000264079.5:p.Gln243Pro
ENST00000394321.9:n.1043A>C
NM_020533.2:c.728A>C NP_065394.1:p.Gln243Pro
NM_020533.3:c.728A>C MANE Select NP_065394.1:p.Gln243Pro
Search 100 bp 5'
Search 100 bp 3'