Canonical Allele Identifier: CA9139273
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs755113693
ExAC: 19:7598743 G / A
gnomAD v2: 19-7598743-G-A
gnomAD v3: 19-7533857-G-A
gnomAD v4: 19-7533857-G-A
MyVariant Identifiers: chr19:g.7598743G>A (hg19) chr19:g.7533857G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533857G>A , CM000681.2:g.7533857G>A GRCh38
NC_000019.9:g.7598743G>A , CM000681.1:g.7598743G>A GRCh37
NC_000019.8:g.7504743G>A NCBI36
NG_013374.1:g.4706G>A
NG_015806.1:g.16248G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*62G>A MANE Select ENSP00000264079.5:n.*62G>A
ENST00000264079.10:c.*62G>A ENSP00000264079.5:n.*62G>A
ENST00000394321.9:n.2120G>A
ENST00000599334.1:c.533G>A
ENST00000601870.1:c.158G>A
ENST00000602227.1:n.359G>A
NM_020533.2:c.*62G>A NP_065394.1:n.*62G>A
NM_020533.3:c.*62G>A MANE Select NP_065394.1:n.*62G>A
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