Canonical Allele Identifier: CA9138877
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1937108
ClinVar RCV Id: RCV002653103
dbSNP Id: rs374461981
ExAC: 19:7592759 T / C
gnomAD v2: 19-7592759-T-C
gnomAD v4: 19-7527873-T-C
MyVariant Identifiers: chr19:g.7592759T>C (hg19) chr19:g.7527873T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527873T>C , CM000681.2:g.7527873T>C GRCh38
NC_000019.9:g.7592759T>C , CM000681.1:g.7592759T>C GRCh37
NC_000019.8:g.7498759T>C NCBI36
NG_015806.1:g.10264T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.690T>C MANE Select ENSP00000264079.5:p.Asn230=
ENST00000264079.10:c.690T>C ENSP00000264079.5:p.Asn230=
ENST00000394321.9:n.1005T>C
ENST00000601003.1:c.581T>C ENSP00000469074.1:p.Met194Thr
NM_020533.2:c.690T>C NP_065394.1:p.Asn230=
NM_020533.3:c.690T>C MANE Select NP_065394.1:p.Asn230=
Search 100 bp 5'
Search 100 bp 3'