Canonical Allele Identifier: CA2320962095
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527024C= , CM000681.2:g.7527024C= GRCh38
NC_000019.9:g.7591910C= , CM000681.1:g.7591910C= GRCh37
NC_000019.8:g.7497910C= NCBI36
NG_015806.1:g.9415C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.571+98C= MANE Select ENSP00000264079.5:n.571+98C=
ENST00000264079.10:c.571+98C= ENSP00000264079.5:n.571+98C=
ENST00000394321.9:n.651+98C=
ENST00000596008.1:n.631C=
ENST00000598406.1:n.392+98C=
ENST00000601003.1:c.571+98C= ENSP00000469074.1:n.571+98C=
NM_020533.2:c.571+98C= NP_065394.1:n.571+98C=
NM_020533.3:c.571+98C= MANE Select NP_065394.1:n.571+98C=
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