Canonical Allele Identifier: CA2320962557
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527880A= , CM000681.2:g.7527880A= GRCh38
NC_000019.9:g.7592766A= , CM000681.1:g.7592766A= GRCh37
NC_000019.8:g.7498766A= NCBI36
NG_015806.1:g.10271A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.697A= MANE Select ENSP00000264079.5:p.Ile233=
ENST00000264079.10:c.697A= ENSP00000264079.5:p.Ile233=
ENST00000394321.9:n.1012A=
ENST00000601003.1:c.588A= ENSP00000469074.1:p.Pro196=
NM_020533.2:c.697A= NP_065394.1:p.Ile233=
NM_020533.3:c.697A= MANE Select NP_065394.1:p.Ile233=
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