Canonical Allele Identifier: CA2320963529
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529887A= , CM000681.2:g.7529887A= GRCh38
NC_000019.9:g.7594773A= , CM000681.1:g.7594773A= GRCh37
NC_000019.8:g.7500773A= NCBI36
NG_013374.1:g.736A=
NG_015806.1:g.12278A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1359+175A= MANE Select ENSP00000264079.5:n.1359+175A=
ENST00000264079.10:c.1359+175A= ENSP00000264079.5:n.1359+175A=
ENST00000394321.9:n.1674+175A=
ENST00000594692.1:n.355+175A=
ENST00000595860.5:n.542+175A=
ENST00000599334.1:c.236+175A=
NM_020533.2:c.1359+175A= NP_065394.1:n.1359+175A=
NM_020533.3:c.1359+175A= MANE Select NP_065394.1:n.1359+175A=
Search 100 bp 5'
Search 100 bp 3'