Canonical Allele Identifier: CA505230726
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1674771
ClinVar RCV Id: RCV002208505
dbSNP Id: rs2146023938
MyVariant Identifiers: chr19:g.7592780G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527894G>C , CM000681.2:g.7527894G>C GRCh38
NC_000019.9:g.7592780G>C , CM000681.1:g.7592780G>C GRCh37
NC_000019.8:g.7498780G>C NCBI36
NG_015806.1:g.10285G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.711G>C MANE Select ENSP00000264079.5:p.Leu237=
ENST00000264079.10:c.711G>C ENSP00000264079.5:p.Leu237=
ENST00000394321.9:n.1026G>C
ENST00000601003.1:c.602G>C
NM_020533.2:c.711G>C NP_065394.1:p.Leu237=
NM_020533.3:c.711G>C MANE Select NP_065394.1:p.Leu237=
Search 100 bp 5'
Search 100 bp 3'