Canonical Allele Identifier: CA2320963708
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530156C= , CM000681.2:g.7530156C= GRCh38
NC_000019.9:g.7595042C= , CM000681.1:g.7595042C= GRCh37
NC_000019.8:g.7501042C= NCBI36
NG_013374.1:g.1005C=
NG_015806.1:g.12547C=

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1360-130C= MANE Select ENSP00000264079.5:n.1360-130C=
ENST00000264079.10:c.1360-130C= ENSP00000264079.5:n.1360-130C=
ENST00000394321.9:n.1675-130C=
ENST00000594692.1:n.356-130C=
ENST00000595860.5:n.543-130C=
ENST00000599334.1:c.237-279C=
NM_020533.2:c.1360-130C= NP_065394.1:n.1360-130C=
NM_020533.3:c.1360-130C= MANE Select NP_065394.1:n.1360-130C=
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