Canonical Allele Identifier: CA403086134
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7593803A>C (hg19) chr19:g.7528917A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528917A>C , CM000681.2:g.7528917A>C GRCh38
NC_000019.9:g.7593803A>C , CM000681.1:g.7593803A>C GRCh37
NC_000019.8:g.7499803A>C NCBI36
NG_015806.1:g.11308A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1081A>C MANE Select ENSP00000264079.5:p.Ser361Arg
ENST00000264079.10:c.1081A>C ENSP00000264079.5:p.Ser361Arg
ENST00000394321.9:n.1396A>C
ENST00000595860.5:n.264A>C
NM_020533.2:c.1081A>C NP_065394.1:p.Ser361Arg
NM_020533.3:c.1081A>C MANE Select NP_065394.1:p.Ser361Arg
Search 100 bp 5'
Search 100 bp 3'