Canonical Allele Identifier: CA2320963515
Gene: MCOLN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529856C= , CM000681.2:g.7529856C= GRCh38
NC_000019.9:g.7594742C= , CM000681.1:g.7594742C= GRCh37
NC_000019.8:g.7500742C= NCBI36
NG_013374.1:g.705C=
NG_015806.1:g.12247C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1359+144C= MANE Select ENSP00000264079.5:n.1359+144C=
ENST00000264079.10:c.1359+144C= ENSP00000264079.5:n.1359+144C=
ENST00000394321.9:n.1674+144C=
ENST00000594692.1:n.355+144C=
ENST00000595860.5:n.542+144C=
ENST00000599334.1:c.236+144C=
NM_020533.2:c.1359+144C= NP_065394.1:n.1359+144C=
NM_020533.3:c.1359+144C= MANE Select NP_065394.1:n.1359+144C=
Search 100 bp 5'
Search 100 bp 3'