Canonical Allele Identifier: CA9138871
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs748401092
ExAC: 19:7592734 C / G
gnomAD v2: 19-7592734-C-G
MyVariant Identifiers: chr19:g.7592734C>G (hg19) chr19:g.7527848C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527848C>G , CM000681.2:g.7527848C>G GRCh38
NC_000019.9:g.7592734C>G , CM000681.1:g.7592734C>G GRCh37
NC_000019.8:g.7498734C>G NCBI36
NG_015806.1:g.10239C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.681-16C>G MANE Select ENSP00000264079.5:n.681-16C>G
ENST00000264079.10:c.681-16C>G ENSP00000264079.5:n.681-16C>G
ENST00000394321.9:n.980C>G
ENST00000601003.1:c.572-16C>G ENSP00000469074.1:n.572-16C>G
NM_020533.2:c.681-16C>G NP_065394.1:n.681-16C>G
NM_020533.3:c.681-16C>G MANE Select NP_065394.1:n.681-16C>G
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