Canonical Allele Identifier: CA2587948844
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7529035-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529035T>C , CM000681.2:g.7529035T>C GRCh38
NC_000019.9:g.7593921T>C , CM000681.1:g.7593921T>C GRCh37
NC_000019.8:g.7499921T>C NCBI36
NG_015806.1:g.11426T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1135-66T>C MANE Select ENSP00000264079.5:n.1135-66T>C
ENST00000264079.10:c.1135-66T>C ENSP00000264079.5:n.1135-66T>C
ENST00000394321.9:n.1450-66T>C
ENST00000594692.1:n.65T>C
ENST00000595860.5:n.318-66T>C
ENST00000599334.1:c.12-66T>C
NM_020533.2:c.1135-66T>C NP_065394.1:n.1135-66T>C
NM_020533.3:c.1135-66T>C MANE Select NP_065394.1:n.1135-66T>C
Search 100 bp 5'
Search 100 bp 3'