Canonical Allele Identifier: CA2320965665
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533983A= , CM000681.2:g.7533983A= GRCh38
NC_000019.9:g.7598869A= , CM000681.1:g.7598869A= GRCh37
NC_000019.8:g.7504869A= NCBI36
NG_013374.1:g.4832A=
NG_015806.1:g.16374A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*188A= MANE Select ENSP00000264079.5:n.*188A=
ENST00000264079.10:c.*188A= ENSP00000264079.5:n.*188A=
ENST00000394321.9:n.2246A=
ENST00000599334.1:c.659A=
ENST00000601870.1:c.169+115A=
ENST00000602227.1:n.485A=
NM_020533.2:c.*188A= NP_065394.1:n.*188A=
NM_020533.3:c.*188A= MANE Select NP_065394.1:n.*188A=
Search 100 bp 5'
Search 100 bp 3'