Canonical Allele Identifier: CA2320961330
Gene: MCOLN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525093A= , CM000681.2:g.7525093A= GRCh38
NC_000019.9:g.7589979A= , CM000681.1:g.7589979A= GRCh37
NC_000019.8:g.7495979A= NCBI36
NG_015806.1:g.7484A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.164A= MANE Select ENSP00000264079.5:p.Lys55=
ENST00000264079.10:c.164A= ENSP00000264079.5:p.Lys55=
ENST00000394321.9:n.244A=
ENST00000596390.1:n.280A=
ENST00000601003.1:c.164A= ENSP00000469074.1:p.Lys55=
NM_020533.2:c.164A= NP_065394.1:p.Lys55=
NM_020533.3:c.164A= MANE Select NP_065394.1:p.Lys55=