Canonical Allele Identifier: CA9139130
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs772838385
ExAC: 19:7595122 G / A
gnomAD v2: 19-7595122-G-A
gnomAD v3: 19-7530236-G-A
gnomAD v4: 19-7530236-G-A
MyVariant Identifiers: chr19:g.7595122G>A (hg19) chr19:g.7530236G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530236G>A , CM000681.2:g.7530236G>A GRCh38
NC_000019.9:g.7595122G>A , CM000681.1:g.7595122G>A GRCh37
NC_000019.8:g.7501122G>A NCBI36
NG_013374.1:g.1085G>A
NG_015806.1:g.12627G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1360-50G>A MANE Select ENSP00000264079.5:n.1360-50G>A
ENST00000264079.10:c.1360-50G>A ENSP00000264079.5:n.1360-50G>A
ENST00000394321.9:n.1675-50G>A
ENST00000594692.1:n.356-50G>A
ENST00000595860.5:n.543-50G>A
ENST00000599334.1:c.237-199G>A
NM_020533.2:c.1360-50G>A NP_065394.1:n.1360-50G>A
NM_020533.3:c.1360-50G>A MANE Select NP_065394.1:n.1360-50G>A
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