Canonical Allele Identifier: CA2320962671
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs772579928

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528143A>C , CM000681.2:g.7528143A>C GRCh38
NC_000019.9:g.7593029A>C , CM000681.1:g.7593029A>C GRCh37
NC_000019.8:g.7499029A>C NCBI36
NG_015806.1:g.10534A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.778-15A>C MANE Select ENSP00000264079.5:n.778-15A>C
ENST00000264079.10:c.778-15A>C ENSP00000264079.5:n.778-15A>C
ENST00000394321.9:n.1093-15A>C
NM_020533.2:c.778-15A>C NP_065394.1:n.778-15A>C
NM_020533.3:c.778-15A>C MANE Select NP_065394.1:n.778-15A>C