Canonical Allele Identifier: CA2587948249
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7527383-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527383C>T , CM000681.2:g.7527383C>T GRCh38
NC_000019.9:g.7592269C>T , CM000681.1:g.7592269C>T GRCh37
NC_000019.8:g.7498269C>T NCBI36
NG_015806.1:g.9774C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.572-137C>T MANE Select ENSP00000264079.5:n.572-137C>T
ENST00000264079.10:c.572-137C>T ENSP00000264079.5:n.572-137C>T
ENST00000394321.9:n.652-137C>T
ENST00000598406.1:n.393-137C>T
ENST00000601003.1:c.571+457C>T ENSP00000469074.1:n.571+457C>T
NM_020533.2:c.572-137C>T NP_065394.1:n.572-137C>T
NM_020533.3:c.572-137C>T MANE Select NP_065394.1:n.572-137C>T
Search 100 bp 5'
Search 100 bp 3'