Canonical Allele Identifier: CA2320962599
Gene: MCOLN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527986G= , CM000681.2:g.7527986G= GRCh38
NC_000019.9:g.7592872G= , CM000681.1:g.7592872G= GRCh37
NC_000019.8:g.7498872G= NCBI36
NG_015806.1:g.10377G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.777+26G= MANE Select ENSP00000264079.5:n.777+26G=
ENST00000264079.10:c.777+26G= ENSP00000264079.5:n.777+26G=
ENST00000394321.9:n.1092+26G=
NM_020533.2:c.777+26G= NP_065394.1:n.777+26G=
NM_020533.3:c.777+26G= MANE Select NP_065394.1:n.777+26G=