Canonical Allele Identifier: CA2320962974
Gene: MCOLN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528786C= , CM000681.2:g.7528786C= GRCh38
NC_000019.9:g.7593672C= , CM000681.1:g.7593672C= GRCh37
NC_000019.8:g.7499672C= NCBI36
NG_015806.1:g.11177C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.985-35C= MANE Select ENSP00000264079.5:n.985-35C=
ENST00000264079.10:c.985-35C= ENSP00000264079.5:n.985-35C=
ENST00000394321.9:n.1300-35C=
ENST00000595860.5:n.133C=
NM_020533.2:c.985-35C= NP_065394.1:n.985-35C=
NM_020533.3:c.985-35C= MANE Select NP_065394.1:n.985-35C=