Canonical Allele Identifier: CA2587950376
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7533801-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533801C>G , CM000681.2:g.7533801C>G GRCh38
NC_000019.9:g.7598687C>G , CM000681.1:g.7598687C>G GRCh37
NC_000019.8:g.7504687C>G NCBI36
NG_013374.1:g.4650C>G
NG_015806.1:g.16192C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*6C>G MANE Select ENSP00000264079.5:n.*6C>G
ENST00000264079.10:c.*6C>G ENSP00000264079.5:n.*6C>G
ENST00000394321.9:n.2064C>G
ENST00000599334.1:c.477C>G
ENST00000601870.1:c.102C>G
ENST00000602227.1:n.303C>G
NM_020533.2:c.*6C>G NP_065394.1:n.*6C>G
NM_020533.3:c.*6C>G MANE Select NP_065394.1:n.*6C>G