Canonical Allele Identifier: CA2320965051
Gene: MCOLN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533198T= , CM000681.2:g.7533198T= GRCh38
NC_000019.9:g.7598084T= , CM000681.1:g.7598084T= GRCh37
NC_000019.8:g.7504084T= NCBI36
NG_013374.1:g.4047T=
NG_015806.1:g.15589T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1576-325T= MANE Select ENSP00000264079.5:n.1576-325T=
ENST00000264079.10:c.1576-325T= ENSP00000264079.5:n.1576-325T=
ENST00000394321.9:n.1891-325T=
ENST00000599334.1:c.304-325T=
NM_020533.2:c.1576-325T= NP_065394.1:n.1576-325T=
NM_020533.3:c.1576-325T= MANE Select NP_065394.1:n.1576-325T=