Canonical Allele Identifier: CA2587947981
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7527058-T-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527058T>A , CM000681.2:g.7527058T>A GRCh38
NC_000019.9:g.7591944T>A , CM000681.1:g.7591944T>A GRCh37
NC_000019.8:g.7497944T>A NCBI36
NG_015806.1:g.9449T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.571+132T>A MANE Select ENSP00000264079.5:n.571+132T>A
ENST00000264079.10:c.571+132T>A ENSP00000264079.5:n.571+132T>A
ENST00000394321.9:n.651+132T>A
ENST00000596008.1:n.665T>A
ENST00000598406.1:n.392+132T>A
ENST00000601003.1:c.571+132T>A ENSP00000469074.1:n.571+132T>A
NM_020533.2:c.571+132T>A NP_065394.1:n.571+132T>A
NM_020533.3:c.571+132T>A MANE Select NP_065394.1:n.571+132T>A
Search 100 bp 5'
Search 100 bp 3'