Canonical Allele Identifier: CA2320962793
Gene: MCOLN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528398C= , CM000681.2:g.7528398C= GRCh38
NC_000019.9:g.7593284C= , CM000681.1:g.7593284C= GRCh37
NC_000019.8:g.7499284C= NCBI36
NG_015806.1:g.10789C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.877+141C= MANE Select ENSP00000264079.5:n.877+141C=
ENST00000264079.10:c.877+141C= ENSP00000264079.5:n.877+141C=
ENST00000394321.9:n.1192+141C=
NM_020533.2:c.877+141C= NP_065394.1:n.877+141C=
NM_020533.3:c.877+141C= MANE Select NP_065394.1:n.877+141C=