Canonical Allele Identifier: CA2320963618
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530022C= , CM000681.2:g.7530022C= GRCh38
NC_000019.9:g.7594908C= , CM000681.1:g.7594908C= GRCh37
NC_000019.8:g.7500908C= NCBI36
NG_013374.1:g.871C=
NG_015806.1:g.12413C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1360-264C= MANE Select ENSP00000264079.5:n.1360-264C=
ENST00000264079.10:c.1360-264C= ENSP00000264079.5:n.1360-264C=
ENST00000394321.9:n.1675-264C=
ENST00000594692.1:n.356-264C=
ENST00000595860.5:n.543-264C=
ENST00000599334.1:c.236+310C=
NM_020533.2:c.1360-264C= NP_065394.1:n.1360-264C=
NM_020533.3:c.1360-264C= MANE Select NP_065394.1:n.1360-264C=
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