Canonical Allele Identifier: CA2320962337
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2729412
ClinVar RCV Id: RCV003506396
dbSNP Id: rs2022588609
gnomAD v4: 19-7527503-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527503T>C , CM000681.2:g.7527503T>C GRCh38
NC_000019.9:g.7592389T>C , CM000681.1:g.7592389T>C GRCh37
NC_000019.8:g.7498389T>C NCBI36
NG_015806.1:g.9894T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.572-17T>C MANE Select ENSP00000264079.5:n.572-17T>C
ENST00000264079.10:c.572-17T>C ENSP00000264079.5:n.572-17T>C
ENST00000394321.9:n.652-17T>C
ENST00000598406.1:n.393-17T>C
ENST00000601003.1:c.572-361T>C ENSP00000469074.1:n.572-361T>C
NM_020533.2:c.572-17T>C NP_065394.1:n.572-17T>C
NM_020533.3:c.572-17T>C MANE Select NP_065394.1:n.572-17T>C
Search 100 bp 5'
Search 100 bp 3'