Canonical Allele Identifier: CA2320962736
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1166125098
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528295C>G , CM000681.2:g.7528295C>G GRCh38
NC_000019.9:g.7593181C>G , CM000681.1:g.7593181C>G GRCh37
NC_000019.8:g.7499181C>G NCBI36
NG_015806.1:g.10686C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.877+38C>G MANE Select ENSP00000264079.5:n.877+38C>G
ENST00000264079.10:c.877+38C>G ENSP00000264079.5:n.877+38C>G
ENST00000394321.9:n.1192+38C>G
NM_020533.2:c.877+38C>G NP_065394.1:n.877+38C>G
NM_020533.3:c.877+38C>G MANE Select NP_065394.1:n.877+38C>G
Search 100 bp 5'
Search 100 bp 3'