Canonical Allele Identifier: CA2320962568
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527915C= , CM000681.2:g.7527915C= GRCh38
NC_000019.9:g.7592801C= , CM000681.1:g.7592801C= GRCh37
NC_000019.8:g.7498801C= NCBI36
NG_015806.1:g.10306C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.732C= MANE Select ENSP00000264079.5:p.Ser244=
ENST00000264079.10:c.732C= ENSP00000264079.5:p.Ser244=
ENST00000394321.9:n.1047C=
NM_020533.2:c.732C= NP_065394.1:p.Ser244=
NM_020533.3:c.732C= MANE Select NP_065394.1:p.Ser244=
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