Canonical Allele Identifier: CA2320963069
Gene: MCOLN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528986A= , CM000681.2:g.7528986A= GRCh38
NC_000019.9:g.7593872A= , CM000681.1:g.7593872A= GRCh37
NC_000019.8:g.7499872A= NCBI36
NG_015806.1:g.11377A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1134+16A= MANE Select ENSP00000264079.5:n.1134+16A=
ENST00000264079.10:c.1134+16A= ENSP00000264079.5:n.1134+16A=
ENST00000394321.9:n.1449+16A=
ENST00000594692.1:n.16A=
ENST00000595860.5:n.317+16A=
ENST00000599334.1:c.11+16A=
NM_020533.2:c.1134+16A= NP_065394.1:n.1134+16A=
NM_020533.3:c.1134+16A= MANE Select NP_065394.1:n.1134+16A=