Canonical Allele Identifier: CA403086136
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7528917-A-G
MyVariant Identifiers: chr19:g.7593803A>G (hg19) chr19:g.7528917A>G (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1081A>G MANE Select ENSP00000264079.5:p.Ser361Gly
ENST00000264079.10:c.1081A>G ENSP00000264079.5:p.Ser361Gly
ENST00000394321.9:n.1396A>G
ENST00000595860.5:n.264A>G
NM_020533.2:c.1081A>G NP_065394.1:p.Ser361Gly
NM_020533.3:c.1081A>G MANE Select NP_065394.1:p.Ser361Gly
Search 100 bp 5'
Search 100 bp 3'