Canonical Allele Identifier: CA403084838
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528228A>C , CM000681.2:g.7528228A>C GRCh38
NC_000019.9:g.7593114A>C , CM000681.1:g.7593114A>C GRCh37
NC_000019.8:g.7499114A>C NCBI36
NG_015806.1:g.10619A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.848A>C MANE Select ENSP00000264079.5:p.Glu283Ala
ENST00000264079.10:c.848A>C ENSP00000264079.5:p.Glu283Ala
ENST00000394321.9:n.1163A>C
NM_020533.2:c.848A>C NP_065394.1:p.Glu283Ala
NM_020533.3:c.848A>C MANE Select NP_065394.1:p.Glu283Ala