Canonical Allele Identifier: CA2587948649
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7528370-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528370G>T , CM000681.2:g.7528370G>T GRCh38
NC_000019.9:g.7593256G>T , CM000681.1:g.7593256G>T GRCh37
NC_000019.8:g.7499256G>T NCBI36
NG_015806.1:g.10761G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.877+113G>T MANE Select ENSP00000264079.5:n.877+113G>T
ENST00000264079.10:c.877+113G>T ENSP00000264079.5:n.877+113G>T
ENST00000394321.9:n.1192+113G>T
NM_020533.2:c.877+113G>T NP_065394.1:n.877+113G>T
NM_020533.3:c.877+113G>T MANE Select NP_065394.1:n.877+113G>T