Canonical Allele Identifier: CA9139104
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs529767526
ExAC: 19:7594495 G / A
gnomAD v2: 19-7594495-G-A
gnomAD v3: 19-7529609-G-A
gnomAD v4: 19-7529609-G-A
MyVariant Identifiers: chr19:g.7594495G>A (hg19) chr19:g.7529609G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529609G>A , CM000681.2:g.7529609G>A GRCh38
NC_000019.9:g.7594495G>A , CM000681.1:g.7594495G>A GRCh37
NC_000019.8:g.7500495G>A NCBI36
NG_013374.1:g.458G>A
NG_015806.1:g.12000G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1256G>A MANE Select ENSP00000264079.5:p.Arg419Gln
ENST00000264079.10:c.1256G>A ENSP00000264079.5:p.Arg419Gln
ENST00000394321.9:n.1571G>A
ENST00000594692.1:n.252G>A
ENST00000595860.5:n.439G>A
ENST00000599334.1:c.133G>A
NM_020533.2:c.1256G>A NP_065394.1:p.Arg419Gln
NM_020533.3:c.1256G>A MANE Select NP_065394.1:p.Arg419Gln
Search 100 bp 5'
Search 100 bp 3'