Canonical Allele Identifier: CA2320963699
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022634429
gnomAD v4: 19-7530138-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530138C>T , CM000681.2:g.7530138C>T GRCh38
NC_000019.9:g.7595024C>T , CM000681.1:g.7595024C>T GRCh37
NC_000019.8:g.7501024C>T NCBI36
NG_013374.1:g.987C>T
NG_015806.1:g.12529C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1360-148C>T MANE Select ENSP00000264079.5:n.1360-148C>T
ENST00000264079.10:c.1360-148C>T ENSP00000264079.5:n.1360-148C>T
ENST00000394321.9:n.1675-148C>T
ENST00000594692.1:n.356-148C>T
ENST00000595860.5:n.543-148C>T
ENST00000599334.1:c.237-297C>T
NM_020533.2:c.1360-148C>T NP_065394.1:n.1360-148C>T
NM_020533.3:c.1360-148C>T MANE Select NP_065394.1:n.1360-148C>T
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