Canonical Allele Identifier: CA2587948366
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7527655-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527655C>A , CM000681.2:g.7527655C>A GRCh38
NC_000019.9:g.7592541C>A , CM000681.1:g.7592541C>A GRCh37
NC_000019.8:g.7498541C>A NCBI36
NG_015806.1:g.10046C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.680+27C>A MANE Select ENSP00000264079.5:n.680+27C>A
ENST00000264079.10:c.680+27C>A ENSP00000264079.5:n.680+27C>A
ENST00000394321.9:n.787C>A
ENST00000598406.1:n.528C>A
ENST00000601003.1:c.572-209C>A ENSP00000469074.1:n.572-209C>A
NM_020533.2:c.680+27C>A NP_065394.1:n.680+27C>A
NM_020533.3:c.680+27C>A MANE Select NP_065394.1:n.680+27C>A
Search 100 bp 5'
Search 100 bp 3'