Canonical Allele Identifier: CA2582317574
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v3: 19-7526613-G-GTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGT
gnomAD v4: 19-7526613-G-GTGGGCGGGCAGGTGCTGGTGGGCAGGCAGGTGCAGGTGGGCGGGCAGGTGCAGT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526637_7526690dup , CM000681.2:g.7526637_7526690dup GRCh38
NC_000019.9:g.7591523_7591576dup , CM000681.1:g.7591523_7591576dup GRCh37
NC_000019.8:g.7497523_7497576dup NCBI36
NG_015806.1:g.9028_9081dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.405+31_406-71dup MANE Select ENSP00000264079.5:n.405+31_406-71dup
ENST00000264079.10:c.405+31_406-71dup ENSP00000264079.5:n.405+31_406-71dup
ENST00000394321.9:n.485+31_486-71dup
ENST00000596008.1:n.367+31_368-71dup
ENST00000598406.1:n.226+31_227-71dup
ENST00000601003.1:c.405+31_406-71dup ENSP00000469074.1:n.405+31_406-71dup
NM_020533.2:c.405+31_406-71dup NP_065394.1:n.405+31_406-71dup
NM_020533.3:c.405+31_406-71dup MANE Select NP_065394.1:n.405+31_406-71dup
Search 100 bp 5'
Search 100 bp 3'