Canonical Allele Identifier: CA631318183
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs569984732
gnomAD v2: 19-7593340-C-T
gnomAD v3: 19-7528454-C-T
gnomAD v4: 19-7528454-C-T
MyVariant Identifiers: chr19:g.7593340C>T (hg19) chr19:g.7528454C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528454C>T , CM000681.2:g.7528454C>T GRCh38
NC_000019.9:g.7593340C>T , CM000681.1:g.7593340C>T GRCh37
NC_000019.8:g.7499340C>T NCBI36
NG_015806.1:g.10845C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.878-143C>T MANE Select ENSP00000264079.5:n.878-143C>T
ENST00000264079.10:c.878-143C>T ENSP00000264079.5:n.878-143C>T
ENST00000394321.9:n.1193-143C>T
NM_020533.2:c.878-143C>T NP_065394.1:n.878-143C>T
NM_020533.3:c.878-143C>T MANE Select NP_065394.1:n.878-143C>T
Search 100 bp 5'
Search 100 bp 3'