Canonical Allele Identifier: CA403086599
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7529108-C-G
MyVariant Identifiers: chr19:g.7593994C>G (hg19) chr19:g.7529108C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529108C>G , CM000681.2:g.7529108C>G GRCh38
NC_000019.9:g.7593994C>G , CM000681.1:g.7593994C>G GRCh37
NC_000019.8:g.7499994C>G NCBI36
NG_015806.1:g.11499C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1142C>G MANE Select ENSP00000264079.5:p.Ala381Gly
ENST00000264079.10:c.1142C>G ENSP00000264079.5:p.Ala381Gly
ENST00000394321.9:n.1457C>G
ENST00000594692.1:n.138C>G
ENST00000595860.5:n.325C>G
ENST00000599334.1:c.19C>G
NM_020533.2:c.1142C>G NP_065394.1:p.Ala381Gly
NM_020533.3:c.1142C>G MANE Select NP_065394.1:p.Ala381Gly
Search 100 bp 5'
Search 100 bp 3'