Canonical Allele Identifier: CA403082463
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7527618-A-G
MyVariant Identifiers: chr19:g.7592504A>G (hg19) chr19:g.7527618A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527618A>G , CM000681.2:g.7527618A>G GRCh38
NC_000019.9:g.7592504A>G , CM000681.1:g.7592504A>G GRCh37
NC_000019.8:g.7498504A>G NCBI36
NG_015806.1:g.10009A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.670A>G MANE Select ENSP00000264079.5:p.Lys224Glu
ENST00000264079.10:c.670A>G ENSP00000264079.5:p.Lys224Glu
ENST00000394321.9:n.750A>G
ENST00000598406.1:n.491A>G
ENST00000601003.1:c.572-246A>G ENSP00000469074.1:n.572-246A>G
NM_020533.2:c.670A>G NP_065394.1:p.Lys224Glu
NM_020533.3:c.670A>G MANE Select NP_065394.1:p.Lys224Glu
Search 100 bp 5'
Search 100 bp 3'