Canonical Allele Identifier: CA631462875
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1107016
ClinVar RCV Id: RCV001431989
dbSNP Id: rs775755004
gnomAD v2: 19-7598404-C-T
gnomAD v3: 19-7533518-C-T
gnomAD v4: 19-7533518-C-T
MyVariant Identifiers: chr19:g.7598404C>T (hg19) chr19:g.7533518C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533518C>T , CM000681.2:g.7533518C>T GRCh38
NC_000019.9:g.7598404C>T , CM000681.1:g.7598404C>T GRCh37
NC_000019.8:g.7504404C>T NCBI36
NG_013374.1:g.4367C>T
NG_015806.1:g.15909C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1576-5C>T MANE Select ENSP00000264079.5:n.1576-5C>T
ENST00000264079.10:c.1576-5C>T ENSP00000264079.5:n.1576-5C>T
ENST00000394321.9:n.1891-5C>T
ENST00000599334.1:c.304-5C>T
ENST00000602227.1:n.125C>T
NM_020533.2:c.1576-5C>T NP_065394.1:n.1576-5C>T
NM_020533.3:c.1576-5C>T MANE Select NP_065394.1:n.1576-5C>T
Search 100 bp 5'
Search 100 bp 3'