Canonical Allele Identifier: CA631317938
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1484262055
gnomAD v2: 19-7592554-G-A
gnomAD v3: 19-7527668-G-A
gnomAD v4: 19-7527668-G-A
MyVariant Identifiers: chr19:g.7592554G>A (hg19) chr19:g.7527668G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527668G>A , CM000681.2:g.7527668G>A GRCh38
NC_000019.9:g.7592554G>A , CM000681.1:g.7592554G>A GRCh37
NC_000019.8:g.7498554G>A NCBI36
NG_015806.1:g.10059G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.680+40G>A MANE Select ENSP00000264079.5:n.680+40G>A
ENST00000264079.10:c.680+40G>A ENSP00000264079.5:n.680+40G>A
ENST00000394321.9:n.800G>A
ENST00000598406.1:n.541G>A
ENST00000601003.1:c.572-196G>A ENSP00000469074.1:n.572-196G>A
NM_020533.2:c.680+40G>A NP_065394.1:n.680+40G>A
NM_020533.3:c.680+40G>A MANE Select NP_065394.1:n.680+40G>A
Search 100 bp 5'
Search 100 bp 3'