Canonical Allele Identifier: CA2320962435
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527688C= , CM000681.2:g.7527688C= GRCh38
NC_000019.9:g.7592574C= , CM000681.1:g.7592574C= GRCh37
NC_000019.8:g.7498574C= NCBI36
NG_015806.1:g.10079C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.680+60C= MANE Select ENSP00000264079.5:n.680+60C=
ENST00000264079.10:c.680+60C= ENSP00000264079.5:n.680+60C=
ENST00000394321.9:n.820C=
ENST00000598406.1:n.561C=
ENST00000601003.1:c.572-176C= ENSP00000469074.1:n.572-176C=
NM_020533.2:c.680+60C= NP_065394.1:n.680+60C=
NM_020533.3:c.680+60C= MANE Select NP_065394.1:n.680+60C=
Search 100 bp 5'
Search 100 bp 3'