Canonical Allele Identifier: CA9138900
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2746666
ClinVar RCV Id: RCV003504665
dbSNP Id: rs370816638
ExAC: 19:7592865 C / G
gnomAD v2: 19-7592865-C-G
gnomAD v3: 19-7527979-C-G
gnomAD v4: 19-7527979-C-G
MyVariant Identifiers: chr19:g.7592865C>G (hg19) chr19:g.7527979C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527979C>G , CM000681.2:g.7527979C>G GRCh38
NC_000019.9:g.7592865C>G , CM000681.1:g.7592865C>G GRCh37
NC_000019.8:g.7498865C>G NCBI36
NG_015806.1:g.10370C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.777+19C>G MANE Select ENSP00000264079.5:n.777+19C>G
ENST00000264079.10:c.777+19C>G ENSP00000264079.5:n.777+19C>G
ENST00000394321.9:n.1092+19C>G
NM_020533.2:c.777+19C>G NP_065394.1:n.777+19C>G
NM_020533.3:c.777+19C>G MANE Select NP_065394.1:n.777+19C>G
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