Canonical Allele Identifier: CA304853979
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs568674506
gnomAD v2: 19-7593329-G-A
gnomAD v3: 19-7528443-G-A
gnomAD v4: 19-7528443-G-A
MyVariant Identifiers: chr19:g.7593329G>A (hg19) chr19:g.7528443G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528443G>A , CM000681.2:g.7528443G>A GRCh38
NC_000019.9:g.7593329G>A , CM000681.1:g.7593329G>A GRCh37
NC_000019.8:g.7499329G>A NCBI36
NG_015806.1:g.10834G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.878-154G>A MANE Select ENSP00000264079.5:n.878-154G>A
ENST00000264079.10:c.878-154G>A ENSP00000264079.5:n.878-154G>A
ENST00000394321.9:n.1193-154G>A
NM_020533.2:c.878-154G>A NP_065394.1:n.878-154G>A
NM_020533.3:c.878-154G>A MANE Select NP_065394.1:n.878-154G>A
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