Canonical Allele Identifier: CA2320963561
Gene: MCOLN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529935G= , CM000681.2:g.7529935G= GRCh38
NC_000019.9:g.7594821G= , CM000681.1:g.7594821G= GRCh37
NC_000019.8:g.7500821G= NCBI36
NG_013374.1:g.784G=
NG_015806.1:g.12326G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1359+223G= MANE Select ENSP00000264079.5:n.1359+223G=
ENST00000264079.10:c.1359+223G= ENSP00000264079.5:n.1359+223G=
ENST00000394321.9:n.1674+223G=
ENST00000594692.1:n.355+223G=
ENST00000595860.5:n.542+223G=
ENST00000599334.1:c.236+223G=
NM_020533.2:c.1359+223G= NP_065394.1:n.1359+223G=
NM_020533.3:c.1359+223G= MANE Select NP_065394.1:n.1359+223G=
Search 100 bp 5'
Search 100 bp 3'