Canonical Allele Identifier: CA2576597214
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7533858-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533858C>A , CM000681.2:g.7533858C>A GRCh38
NC_000019.9:g.7598744C>A , CM000681.1:g.7598744C>A GRCh37
NC_000019.8:g.7504744C>A NCBI36
NG_013374.1:g.4707C>A
NG_015806.1:g.16249C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*63C>A MANE Select ENSP00000264079.5:n.*63C>A
ENST00000264079.10:c.*63C>A ENSP00000264079.5:n.*63C>A
ENST00000394321.9:n.2121C>A
ENST00000599334.1:c.534C>A
ENST00000601870.1:c.159C>A
ENST00000602227.1:n.360C>A
NM_020533.2:c.*63C>A NP_065394.1:n.*63C>A
NM_020533.3:c.*63C>A MANE Select NP_065394.1:n.*63C>A
Search 100 bp 5'
Search 100 bp 3'