Canonical Allele Identifier: CA2587948136
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2146023180
gnomAD v4: 19-7527242-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527242A>C , CM000681.2:g.7527242A>C GRCh38
NC_000019.9:g.7592128A>C , CM000681.1:g.7592128A>C GRCh37
NC_000019.8:g.7498128A>C NCBI36
NG_015806.1:g.9633A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.572-278A>C MANE Select ENSP00000264079.5:n.572-278A>C
ENST00000264079.10:c.572-278A>C ENSP00000264079.5:n.572-278A>C
ENST00000394321.9:n.652-278A>C
ENST00000598406.1:n.393-278A>C
ENST00000601003.1:c.571+316A>C ENSP00000469074.1:n.571+316A>C
NM_020533.2:c.572-278A>C NP_065394.1:n.572-278A>C
NM_020533.3:c.572-278A>C MANE Select NP_065394.1:n.572-278A>C
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