Canonical Allele Identifier: CA2320962578
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527942C= , CM000681.2:g.7527942C= GRCh38
NC_000019.9:g.7592828C= , CM000681.1:g.7592828C= GRCh37
NC_000019.8:g.7498828C= NCBI36
NG_015806.1:g.10333C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.759C= MANE Select ENSP00000264079.5:p.Cys253=
ENST00000264079.10:c.759C= ENSP00000264079.5:p.Cys253=
ENST00000394321.9:n.1074C=
NM_020533.2:c.759C= NP_065394.1:p.Cys253=
NM_020533.3:c.759C= MANE Select NP_065394.1:p.Cys253=
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