Canonical Allele Identifier: CA2587950440
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7533924-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533924T>G , CM000681.2:g.7533924T>G GRCh38
NC_000019.9:g.7598810T>G , CM000681.1:g.7598810T>G GRCh37
NC_000019.8:g.7504810T>G NCBI36
NG_013374.1:g.4773T>G
NG_015806.1:g.16315T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*129T>G MANE Select ENSP00000264079.5:n.*129T>G
ENST00000264079.10:c.*129T>G ENSP00000264079.5:n.*129T>G
ENST00000394321.9:n.2187T>G
ENST00000599334.1:c.600T>G
ENST00000601870.1:c.169+56T>G
ENST00000602227.1:n.426T>G
NM_020533.2:c.*129T>G NP_065394.1:n.*129T>G
NM_020533.3:c.*129T>G MANE Select NP_065394.1:n.*129T>G
Search 100 bp 5'
Search 100 bp 3'