Canonical Allele Identifier: CA2587950330
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7533484-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533484A>G , CM000681.2:g.7533484A>G GRCh38
NC_000019.9:g.7598370A>G , CM000681.1:g.7598370A>G GRCh37
NC_000019.8:g.7504370A>G NCBI36
NG_013374.1:g.4333A>G
NG_015806.1:g.15875A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1576-39A>G MANE Select ENSP00000264079.5:n.1576-39A>G
ENST00000264079.10:c.1576-39A>G ENSP00000264079.5:n.1576-39A>G
ENST00000394321.9:n.1891-39A>G
ENST00000599334.1:c.304-39A>G
ENST00000602227.1:n.91A>G
NM_020533.2:c.1576-39A>G NP_065394.1:n.1576-39A>G
NM_020533.3:c.1576-39A>G MANE Select NP_065394.1:n.1576-39A>G