Canonical Allele Identifier: CA505230738
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7592798G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527912G>A , CM000681.2:g.7527912G>A GRCh38
NC_000019.9:g.7592798G>A , CM000681.1:g.7592798G>A GRCh37
NC_000019.8:g.7498798G>A NCBI36
NG_015806.1:g.10303G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.729G>A MANE Select ENSP00000264079.5:p.Gln243=
ENST00000264079.10:c.729G>A ENSP00000264079.5:p.Gln243=
ENST00000394321.9:n.1044G>A
NM_020533.2:c.729G>A NP_065394.1:p.Gln243=
NM_020533.3:c.729G>A MANE Select NP_065394.1:p.Gln243=
Search 100 bp 5'
Search 100 bp 3'