Canonical Allele Identifier: CA9138597
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs757727084
ExAC: 19:7589880 A / C
gnomAD v2: 19-7589880-A-C
gnomAD v4: 19-7524994-A-C
MyVariant Identifiers: chr19:g.7589880A>C (hg19) chr19:g.7524994A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7524994A>C , CM000681.2:g.7524994A>C GRCh38
NC_000019.9:g.7589880A>C , CM000681.1:g.7589880A>C GRCh37
NC_000019.8:g.7495880A>C NCBI36
NG_015806.1:g.7385A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.65A>C MANE Select ENSP00000264079.5:p.Tyr22Ser
ENST00000264079.10:c.65A>C ENSP00000264079.5:p.Tyr22Ser
ENST00000394321.9:n.145A>C
ENST00000596390.1:n.181A>C
ENST00000601003.1:c.65A>C ENSP00000469074.1:p.Tyr22Ser
NM_020533.2:c.65A>C NP_065394.1:p.Tyr22Ser
NM_020533.3:c.65A>C MANE Select NP_065394.1:p.Tyr22Ser
Search 100 bp 5'
Search 100 bp 3'