Canonical Allele Identifier: CA2587950466
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7533953-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533953A>C , CM000681.2:g.7533953A>C GRCh38
NC_000019.9:g.7598839A>C , CM000681.1:g.7598839A>C GRCh37
NC_000019.8:g.7504839A>C NCBI36
NG_013374.1:g.4802A>C
NG_015806.1:g.16344A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*158A>C MANE Select ENSP00000264079.5:n.*158A>C
ENST00000264079.10:c.*158A>C ENSP00000264079.5:n.*158A>C
ENST00000394321.9:n.2216A>C
ENST00000599334.1:c.629A>C
ENST00000601870.1:c.169+85A>C
ENST00000602227.1:n.455A>C
NM_020533.2:c.*158A>C NP_065394.1:n.*158A>C
NM_020533.3:c.*158A>C MANE Select NP_065394.1:n.*158A>C
Search 100 bp 5'
Search 100 bp 3'