Canonical Allele Identifier: CA2587948673
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7528398-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528398C>G , CM000681.2:g.7528398C>G GRCh38
NC_000019.9:g.7593284C>G , CM000681.1:g.7593284C>G GRCh37
NC_000019.8:g.7499284C>G NCBI36
NG_015806.1:g.10789C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.877+141C>G MANE Select ENSP00000264079.5:n.877+141C>G
ENST00000264079.10:c.877+141C>G ENSP00000264079.5:n.877+141C>G
ENST00000394321.9:n.1192+141C>G
NM_020533.2:c.877+141C>G NP_065394.1:n.877+141C>G
NM_020533.3:c.877+141C>G MANE Select NP_065394.1:n.877+141C>G
Search 100 bp 5'
Search 100 bp 3'