Canonical Allele Identifier: CA2587950378
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7533804-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533804G>A , CM000681.2:g.7533804G>A GRCh38
NC_000019.9:g.7598690G>A , CM000681.1:g.7598690G>A GRCh37
NC_000019.8:g.7504690G>A NCBI36
NG_013374.1:g.4653G>A
NG_015806.1:g.16195G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*9G>A MANE Select ENSP00000264079.5:n.*9G>A
ENST00000264079.10:c.*9G>A ENSP00000264079.5:n.*9G>A
ENST00000394321.9:n.2067G>A
ENST00000599334.1:c.480G>A
ENST00000601870.1:c.105G>A
ENST00000602227.1:n.306G>A
NM_020533.2:c.*9G>A NP_065394.1:n.*9G>A
NM_020533.3:c.*9G>A MANE Select NP_065394.1:n.*9G>A