Canonical Allele Identifier: CA403082128
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1184973278
gnomAD v3: 19-7527564-A-C
gnomAD v4: 19-7527564-A-C
MyVariant Identifiers: chr19:g.7592450A>C (hg19) chr19:g.7527564A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527564A>C , CM000681.2:g.7527564A>C GRCh38
NC_000019.9:g.7592450A>C , CM000681.1:g.7592450A>C GRCh37
NC_000019.8:g.7498450A>C NCBI36
NG_015806.1:g.9955A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.616A>C MANE Select ENSP00000264079.5:p.Ser206Arg
ENST00000264079.10:c.616A>C ENSP00000264079.5:p.Ser206Arg
ENST00000394321.9:n.696A>C
ENST00000598406.1:n.437A>C
ENST00000601003.1:c.572-300A>C ENSP00000469074.1:n.572-300A>C
NM_020533.2:c.616A>C NP_065394.1:p.Ser206Arg
NM_020533.3:c.616A>C MANE Select NP_065394.1:p.Ser206Arg
Search 100 bp 5'
Search 100 bp 3'