Canonical Allele Identifier: CA2320963138
Gene: MCOLN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529111G= , CM000681.2:g.7529111G= GRCh38
NC_000019.9:g.7593997G= , CM000681.1:g.7593997G= GRCh37
NC_000019.8:g.7499997G= NCBI36
NG_015806.1:g.11502G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1145G= MANE Select ENSP00000264079.5:p.Ser382=
ENST00000264079.10:c.1145G= ENSP00000264079.5:p.Ser382=
ENST00000394321.9:n.1460G=
ENST00000594692.1:n.141G=
ENST00000595860.5:n.328G=
ENST00000599334.1:c.22G=
NM_020533.2:c.1145G= NP_065394.1:p.Ser382=
NM_020533.3:c.1145G= MANE Select NP_065394.1:p.Ser382=