Canonical Allele Identifier: CA304853549
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs942228399
MyVariant Identifiers: chr19:g.7592618del (hg19) chr19:g.7527732del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527734del , CM000681.2:g.7527734del GRCh38
NC_000019.9:g.7592620del , CM000681.1:g.7592620del GRCh37
NC_000019.8:g.7498620del NCBI36
NG_015806.1:g.10125del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.680+106del MANE Select ENSP00000264079.5:n.680+106del
ENST00000264079.10:c.680+106del ENSP00000264079.5:n.680+106del
ENST00000394321.9:n.866del
ENST00000598406.1:n.607del
ENST00000601003.1:c.572-130del ENSP00000469074.1:n.572-130del
NM_020533.2:c.680+106del NP_065394.1:n.680+106del
NM_020533.3:c.680+106del MANE Select NP_065394.1:n.680+106del
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