Canonical Allele Identifier: CA631317928
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2894299
ClinVar RCV Id: RCV003615213
dbSNP Id: rs1346995741
gnomAD v2: 19-7592534-G-C
gnomAD v3: 19-7527648-G-C
gnomAD v4: 19-7527648-G-C
MyVariant Identifiers: chr19:g.7592534G>C (hg19) chr19:g.7527648G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527648G>C , CM000681.2:g.7527648G>C GRCh38
NC_000019.9:g.7592534G>C , CM000681.1:g.7592534G>C GRCh37
NC_000019.8:g.7498534G>C NCBI36
NG_015806.1:g.10039G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.680+20G>C MANE Select ENSP00000264079.5:n.680+20G>C
ENST00000264079.10:c.680+20G>C ENSP00000264079.5:n.680+20G>C
ENST00000394321.9:n.780G>C
ENST00000598406.1:n.521G>C
ENST00000601003.1:c.572-216G>C ENSP00000469074.1:n.572-216G>C
NM_020533.2:c.680+20G>C NP_065394.1:n.680+20G>C
NM_020533.3:c.680+20G>C MANE Select NP_065394.1:n.680+20G>C
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