Canonical Allele Identifier: CA631318272
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1208008413
gnomAD v2: 19-7593620-C-T
gnomAD v4: 19-7528734-C-T
MyVariant Identifiers: chr19:g.7593620C>T (hg19) chr19:g.7528734C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528734C>T , CM000681.2:g.7528734C>T GRCh38
NC_000019.9:g.7593620C>T , CM000681.1:g.7593620C>T GRCh37
NC_000019.8:g.7499620C>T NCBI36
NG_015806.1:g.11125C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.984+31C>T MANE Select ENSP00000264079.5:n.984+31C>T
ENST00000264079.10:c.984+31C>T ENSP00000264079.5:n.984+31C>T
ENST00000394321.9:n.1299+31C>T
ENST00000595860.5:n.81C>T
NM_020533.2:c.984+31C>T NP_065394.1:n.984+31C>T
NM_020533.3:c.984+31C>T MANE Select NP_065394.1:n.984+31C>T
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