Canonical Allele Identifier: CA2320965618
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533899G= , CM000681.2:g.7533899G= GRCh38
NC_000019.9:g.7598785G= , CM000681.1:g.7598785G= GRCh37
NC_000019.8:g.7504785G= NCBI36
NG_013374.1:g.4748G=
NG_015806.1:g.16290G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*104G= MANE Select ENSP00000264079.5:n.*104G=
ENST00000264079.10:c.*104G= ENSP00000264079.5:n.*104G=
ENST00000394321.9:n.2162G=
ENST00000599334.1:c.575G=
ENST00000601870.1:c.169+31G=
ENST00000602227.1:n.401G=
NM_020533.2:c.*104G= NP_065394.1:n.*104G=
NM_020533.3:c.*104G= MANE Select NP_065394.1:n.*104G=
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