Canonical Allele Identifier: CA2587947871
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7526642-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526642G>T , CM000681.2:g.7526642G>T GRCh38
NC_000019.9:g.7591528G>T , CM000681.1:g.7591528G>T GRCh37
NC_000019.8:g.7497528G>T NCBI36
NG_015806.1:g.9033G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.405+36G>T MANE Select ENSP00000264079.5:n.405+36G>T
ENST00000264079.10:c.405+36G>T ENSP00000264079.5:n.405+36G>T
ENST00000394321.9:n.485+36G>T
ENST00000596008.1:n.367+36G>T
ENST00000598406.1:n.226+36G>T
ENST00000601003.1:c.405+36G>T ENSP00000469074.1:n.405+36G>T
NM_020533.2:c.405+36G>T NP_065394.1:n.405+36G>T
NM_020533.3:c.405+36G>T MANE Select NP_065394.1:n.405+36G>T
Search 100 bp 5'
Search 100 bp 3'