Canonical Allele Identifier: CA9139261
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs749860377
ExAC: 19:7598712 C / T
gnomAD v2: 19-7598712-C-T
gnomAD v4: 19-7533826-C-T
MyVariant Identifiers: chr19:g.7598712C>T (hg19) chr19:g.7533826C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533826C>T , CM000681.2:g.7533826C>T GRCh38
NC_000019.9:g.7598712C>T , CM000681.1:g.7598712C>T GRCh37
NC_000019.8:g.7504712C>T NCBI36
NG_013374.1:g.4675C>T
NG_015806.1:g.16217C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*31C>T MANE Select ENSP00000264079.5:n.*31C>T
ENST00000264079.10:c.*31C>T ENSP00000264079.5:n.*31C>T
ENST00000394321.9:n.2089C>T
ENST00000599334.1:c.502C>T
ENST00000601870.1:c.127C>T
ENST00000602227.1:n.328C>T
NM_020533.2:c.*31C>T NP_065394.1:n.*31C>T
NM_020533.3:c.*31C>T MANE Select NP_065394.1:n.*31C>T
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Search 100 bp 3'