Canonical Allele Identifier: CA2320965651
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533964A= , CM000681.2:g.7533964A= GRCh38
NC_000019.9:g.7598850A= , CM000681.1:g.7598850A= GRCh37
NC_000019.8:g.7504850A= NCBI36
NG_013374.1:g.4813A=
NG_015806.1:g.16355A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*169A= MANE Select ENSP00000264079.5:n.*169A=
ENST00000264079.10:c.*169A= ENSP00000264079.5:n.*169A=
ENST00000394321.9:n.2227A=
ENST00000599334.1:c.640A=
ENST00000601870.1:c.169+96A=
ENST00000602227.1:n.466A=
NM_020533.2:c.*169A= NP_065394.1:n.*169A=
NM_020533.3:c.*169A= MANE Select NP_065394.1:n.*169A=
Search 100 bp 5'
Search 100 bp 3'