Canonical Allele Identifier: CA9138818
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs779796059
ExAC: 19:7592519 T / C
gnomAD v2: 19-7592519-T-C
gnomAD v3: 19-7527633-T-C
gnomAD v4: 19-7527633-T-C
MyVariant Identifiers: chr19:g.7592519T>C (hg19) chr19:g.7527633T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527633T>C , CM000681.2:g.7527633T>C GRCh38
NC_000019.9:g.7592519T>C , CM000681.1:g.7592519T>C GRCh37
NC_000019.8:g.7498519T>C NCBI36
NG_015806.1:g.10024T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.680+5T>C MANE Select ENSP00000264079.5:n.680+5T>C
ENST00000264079.10:c.680+5T>C ENSP00000264079.5:n.680+5T>C
ENST00000394321.9:n.765T>C
ENST00000598406.1:n.506T>C
ENST00000601003.1:c.572-231T>C ENSP00000469074.1:n.572-231T>C
NM_020533.2:c.680+5T>C NP_065394.1:n.680+5T>C
NM_020533.3:c.680+5T>C MANE Select NP_065394.1:n.680+5T>C
Search 100 bp 5'
Search 100 bp 3'