Canonical Allele Identifier: CA2320961300
Gene: MCOLN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525081G= , CM000681.2:g.7525081G= GRCh38
NC_000019.9:g.7589967G= , CM000681.1:g.7589967G= GRCh37
NC_000019.8:g.7495967G= NCBI36
NG_015806.1:g.7472G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.152G= MANE Select ENSP00000264079.5:p.Ser51=
ENST00000264079.10:c.152G= ENSP00000264079.5:p.Ser51=
ENST00000394321.9:n.232G=
ENST00000596390.1:n.268G=
ENST00000601003.1:c.152G= ENSP00000469074.1:p.Ser51=
NM_020533.2:c.152G= NP_065394.1:p.Ser51=
NM_020533.3:c.152G= MANE Select NP_065394.1:p.Ser51=