Canonical Allele Identifier: CA9139232
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs371218186
ExAC: 19:7598552 G / T
gnomAD v2: 19-7598552-G-T
gnomAD v3: 19-7533666-G-T
gnomAD v4: 19-7533666-G-T
MyVariant Identifiers: chr19:g.7598552G>T (hg19) chr19:g.7533666G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533666G>T , CM000681.2:g.7533666G>T GRCh38
NC_000019.9:g.7598552G>T , CM000681.1:g.7598552G>T GRCh37
NC_000019.8:g.7504552G>T NCBI36
NG_013374.1:g.4515G>T
NG_015806.1:g.16057G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1706+13G>T MANE Select ENSP00000264079.5:n.1706+13G>T
ENST00000264079.10:c.1706+13G>T ENSP00000264079.5:n.1706+13G>T
ENST00000394321.9:n.2021+13G>T
ENST00000599334.1:c.434+13G>T
ENST00000601870.1:c.59+13G>T
ENST00000602227.1:n.260+13G>T
NM_020533.2:c.1706+13G>T NP_065394.1:n.1706+13G>T
NM_020533.3:c.1706+13G>T MANE Select NP_065394.1:n.1706+13G>T
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