Canonical Allele Identifier: CA14633975
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1217497
ClinVar RCV Id: RCV001588170
dbSNP Id: rs111944067
gnomAD v2: 19-7592940-C-T
gnomAD v3: 19-7528054-C-T
gnomAD v4: 19-7528054-C-T
MyVariant Identifiers: chr19:g.7592940C>T (hg19) chr19:g.7528054C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528054C>T , CM000681.2:g.7528054C>T GRCh38
NC_000019.9:g.7592940C>T , CM000681.1:g.7592940C>T GRCh37
NC_000019.8:g.7498940C>T NCBI36
NG_015806.1:g.10445C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.777+94C>T MANE Select ENSP00000264079.5:n.777+94C>T
ENST00000264079.10:c.777+94C>T ENSP00000264079.5:n.777+94C>T
ENST00000394321.9:n.1092+94C>T
NM_020533.2:c.777+94C>T NP_065394.1:n.777+94C>T
NM_020533.3:c.777+94C>T MANE Select NP_065394.1:n.777+94C>T
Search 100 bp 5'
Search 100 bp 3'