Canonical Allele Identifier: CA2320962769
Gene: MCOLN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528349T= , CM000681.2:g.7528349T= GRCh38
NC_000019.9:g.7593235T= , CM000681.1:g.7593235T= GRCh37
NC_000019.8:g.7499235T= NCBI36
NG_015806.1:g.10740T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.877+92T= MANE Select ENSP00000264079.5:n.877+92T=
ENST00000264079.10:c.877+92T= ENSP00000264079.5:n.877+92T=
ENST00000394321.9:n.1192+92T=
NM_020533.2:c.877+92T= NP_065394.1:n.877+92T=
NM_020533.3:c.877+92T= MANE Select NP_065394.1:n.877+92T=