Canonical Allele Identifier: CA9138863
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs377168745
ExAC: 19:7592701 G / A
gnomAD v2: 19-7592701-G-A
gnomAD v3: 19-7527815-G-A
gnomAD v4: 19-7527815-G-A
MyVariant Identifiers: chr19:g.7592701G>A (hg19) chr19:g.7527815G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527815G>A , CM000681.2:g.7527815G>A GRCh38
NC_000019.9:g.7592701G>A , CM000681.1:g.7592701G>A GRCh37
NC_000019.8:g.7498701G>A NCBI36
NG_015806.1:g.10206G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.681-49G>A MANE Select ENSP00000264079.5:n.681-49G>A
ENST00000264079.10:c.681-49G>A ENSP00000264079.5:n.681-49G>A
ENST00000394321.9:n.947G>A
ENST00000601003.1:c.572-49G>A ENSP00000469074.1:n.572-49G>A
NM_020533.2:c.681-49G>A NP_065394.1:n.681-49G>A
NM_020533.3:c.681-49G>A MANE Select NP_065394.1:n.681-49G>A
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