Canonical Allele Identifier: CA2587948698
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7528457-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528457A>G , CM000681.2:g.7528457A>G GRCh38
NC_000019.9:g.7593343A>G , CM000681.1:g.7593343A>G GRCh37
NC_000019.8:g.7499343A>G NCBI36
NG_015806.1:g.10848A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.878-140A>G MANE Select ENSP00000264079.5:n.878-140A>G
ENST00000264079.10:c.878-140A>G ENSP00000264079.5:n.878-140A>G
ENST00000394321.9:n.1193-140A>G
NM_020533.2:c.878-140A>G NP_065394.1:n.878-140A>G
NM_020533.3:c.878-140A>G MANE Select NP_065394.1:n.878-140A>G
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