Canonical Allele Identifier: CA505230769
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1541537
ClinVar RCV Id: RCV002164629
dbSNP Id: rs756314123
gnomAD v4: 19-7527936-G-C
MyVariant Identifiers: chr19:g.7592822G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527936G>C , CM000681.2:g.7527936G>C GRCh38
NC_000019.9:g.7592822G>C , CM000681.1:g.7592822G>C GRCh37
NC_000019.8:g.7498822G>C NCBI36
NG_015806.1:g.10327G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.753G>C MANE Select ENSP00000264079.5:p.Pro251=
ENST00000264079.10:c.753G>C ENSP00000264079.5:p.Pro251=
ENST00000394321.9:n.1068G>C
NM_020533.2:c.753G>C NP_065394.1:p.Pro251=
NM_020533.3:c.753G>C MANE Select NP_065394.1:p.Pro251=
Search 100 bp 5'
Search 100 bp 3'