Canonical Allele Identifier: CA2320965555
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533803T= , CM000681.2:g.7533803T= GRCh38
NC_000019.9:g.7598689T= , CM000681.1:g.7598689T= GRCh37
NC_000019.8:g.7504689T= NCBI36
NG_013374.1:g.4652T=
NG_015806.1:g.16194T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*8T= MANE Select ENSP00000264079.5:n.*8T=
ENST00000264079.10:c.*8T= ENSP00000264079.5:n.*8T=
ENST00000394321.9:n.2066T=
ENST00000599334.1:c.479T=
ENST00000601870.1:c.104T=
ENST00000602227.1:n.305T=
NM_020533.2:c.*8T= NP_065394.1:n.*8T=
NM_020533.3:c.*8T= MANE Select NP_065394.1:n.*8T=
Search 100 bp 5'
Search 100 bp 3'