Canonical Allele Identifier: CA993153823
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1599253841
gnomAD v3: 19-7527239-T-C
gnomAD v4: 19-7527239-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527239T>C , CM000681.2:g.7527239T>C GRCh38
NC_000019.9:g.7592125T>C , CM000681.1:g.7592125T>C GRCh37
NC_000019.8:g.7498125T>C NCBI36
NG_015806.1:g.9630T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.572-281T>C MANE Select ENSP00000264079.5:n.572-281T>C
ENST00000264079.10:c.572-281T>C ENSP00000264079.5:n.572-281T>C
ENST00000394321.9:n.652-281T>C
ENST00000598406.1:n.393-281T>C
ENST00000601003.1:c.571+313T>C ENSP00000469074.1:n.571+313T>C
NM_020533.2:c.572-281T>C NP_065394.1:n.572-281T>C
NM_020533.3:c.572-281T>C MANE Select NP_065394.1:n.572-281T>C
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