Canonical Allele Identifier: CA403092069
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533777T>G , CM000681.2:g.7533777T>G GRCh38
NC_000019.9:g.7598663T>G , CM000681.1:g.7598663T>G GRCh37
NC_000019.8:g.7504663T>G NCBI36
NG_013374.1:g.4626T>G
NG_015806.1:g.16168T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1725T>G MANE Select ENSP00000264079.5:p.His575Gln
ENST00000264079.10:c.1725T>G ENSP00000264079.5:p.His575Gln
ENST00000394321.9:n.2040T>G
ENST00000599334.1:c.453T>G
ENST00000601870.1:c.78T>G
ENST00000602227.1:n.279T>G
NM_020533.2:c.1725T>G NP_065394.1:p.His575Gln
NM_020533.3:c.1725T>G MANE Select NP_065394.1:p.His575Gln