Canonical Allele Identifier: CA2320962547
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527862A= , CM000681.2:g.7527862A= GRCh38
NC_000019.9:g.7592748A= , CM000681.1:g.7592748A= GRCh37
NC_000019.8:g.7498748A= NCBI36
NG_015806.1:g.10253A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.681-2A= MANE Select ENSP00000264079.5:n.681-2A=
ENST00000264079.10:c.681-2A= ENSP00000264079.5:n.681-2A=
ENST00000394321.9:n.994A=
ENST00000601003.1:c.572-2A= ENSP00000469074.1:n.572-2A=
NM_020533.2:c.681-2A= NP_065394.1:n.681-2A=
NM_020533.3:c.681-2A= MANE Select NP_065394.1:n.681-2A=
Search 100 bp 5'
Search 100 bp 3'