Canonical Allele Identifier: CA2587950406
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7533883-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533883T>A , CM000681.2:g.7533883T>A GRCh38
NC_000019.9:g.7598769T>A , CM000681.1:g.7598769T>A GRCh37
NC_000019.8:g.7504769T>A NCBI36
NG_013374.1:g.4732T>A
NG_015806.1:g.16274T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*88T>A MANE Select ENSP00000264079.5:n.*88T>A
ENST00000264079.10:c.*88T>A ENSP00000264079.5:n.*88T>A
ENST00000394321.9:n.2146T>A
ENST00000599334.1:c.559T>A
ENST00000601870.1:c.169+15T>A
ENST00000602227.1:n.385T>A
NM_020533.2:c.*88T>A NP_065394.1:n.*88T>A
NM_020533.3:c.*88T>A MANE Select NP_065394.1:n.*88T>A
Search 100 bp 5'
Search 100 bp 3'