Canonical Allele Identifier: CA9138839
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs751158190
ExAC: 19:7592614 C / T
gnomAD v2: 19-7592614-C-T
gnomAD v4: 19-7527728-C-T
MyVariant Identifiers: chr19:g.7592614C>T (hg19) chr19:g.7527728C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527728C>T , CM000681.2:g.7527728C>T GRCh38
NC_000019.9:g.7592614C>T , CM000681.1:g.7592614C>T GRCh37
NC_000019.8:g.7498614C>T NCBI36
NG_015806.1:g.10119C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.680+100C>T MANE Select ENSP00000264079.5:n.680+100C>T
ENST00000264079.10:c.680+100C>T ENSP00000264079.5:n.680+100C>T
ENST00000394321.9:n.860C>T
ENST00000598406.1:n.601C>T
ENST00000601003.1:c.572-136C>T ENSP00000469074.1:n.572-136C>T
NM_020533.2:c.680+100C>T NP_065394.1:n.680+100C>T
NM_020533.3:c.680+100C>T MANE Select NP_065394.1:n.680+100C>T
Search 100 bp 5'
Search 100 bp 3'