Canonical Allele Identifier: CA2320965076
Gene: MCOLN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533252G= , CM000681.2:g.7533252G= GRCh38
NC_000019.9:g.7598138G= , CM000681.1:g.7598138G= GRCh37
NC_000019.8:g.7504138G= NCBI36
NG_013374.1:g.4101G=
NG_015806.1:g.15643G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1576-271G= MANE Select ENSP00000264079.5:n.1576-271G=
ENST00000264079.10:c.1576-271G= ENSP00000264079.5:n.1576-271G=
ENST00000394321.9:n.1891-271G=
ENST00000599334.1:c.304-271G=
NM_020533.2:c.1576-271G= NP_065394.1:n.1576-271G=
NM_020533.3:c.1576-271G= MANE Select NP_065394.1:n.1576-271G=