Canonical Allele Identifier: CA2587948848
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7529043-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529043C>T , CM000681.2:g.7529043C>T GRCh38
NC_000019.9:g.7593929C>T , CM000681.1:g.7593929C>T GRCh37
NC_000019.8:g.7499929C>T NCBI36
NG_015806.1:g.11434C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1135-58C>T MANE Select ENSP00000264079.5:n.1135-58C>T
ENST00000264079.10:c.1135-58C>T ENSP00000264079.5:n.1135-58C>T
ENST00000394321.9:n.1450-58C>T
ENST00000594692.1:n.73C>T
ENST00000595860.5:n.318-58C>T
ENST00000599334.1:c.12-58C>T
NM_020533.2:c.1135-58C>T NP_065394.1:n.1135-58C>T
NM_020533.3:c.1135-58C>T MANE Select NP_065394.1:n.1135-58C>T
Search 100 bp 5'
Search 100 bp 3'