Canonical Allele Identifier: CA9138785
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs776715003
ExAC: 19:7592385 T / C
gnomAD v2: 19-7592385-T-C
gnomAD v4: 19-7527499-T-C
MyVariant Identifiers: chr19:g.7592385T>C (hg19) chr19:g.7527499T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527499T>C , CM000681.2:g.7527499T>C GRCh38
NC_000019.9:g.7592385T>C , CM000681.1:g.7592385T>C GRCh37
NC_000019.8:g.7498385T>C NCBI36
NG_015806.1:g.9890T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.572-21T>C MANE Select ENSP00000264079.5:n.572-21T>C
ENST00000264079.10:c.572-21T>C ENSP00000264079.5:n.572-21T>C
ENST00000394321.9:n.652-21T>C
ENST00000598406.1:n.393-21T>C
ENST00000601003.1:c.572-365T>C ENSP00000469074.1:n.572-365T>C
NM_020533.2:c.572-21T>C NP_065394.1:n.572-21T>C
NM_020533.3:c.572-21T>C MANE Select NP_065394.1:n.572-21T>C
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