Canonical Allele Identifier: CA2587948641
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7528358-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528358C>G , CM000681.2:g.7528358C>G GRCh38
NC_000019.9:g.7593244C>G , CM000681.1:g.7593244C>G GRCh37
NC_000019.8:g.7499244C>G NCBI36
NG_015806.1:g.10749C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.877+101C>G MANE Select ENSP00000264079.5:n.877+101C>G
ENST00000264079.10:c.877+101C>G ENSP00000264079.5:n.877+101C>G
ENST00000394321.9:n.1192+101C>G
NM_020533.2:c.877+101C>G NP_065394.1:n.877+101C>G
NM_020533.3:c.877+101C>G MANE Select NP_065394.1:n.877+101C>G