Canonical Allele Identifier: CA403152468
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525008G>C , CM000681.2:g.7525008G>C GRCh38
NC_000019.9:g.7589894G>C , CM000681.1:g.7589894G>C GRCh37
NC_000019.8:g.7495894G>C NCBI36
NG_015806.1:g.7399G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.79G>C MANE Select ENSP00000264079.5:p.Gly27Arg
ENST00000264079.10:c.79G>C ENSP00000264079.5:p.Gly27Arg
ENST00000394321.9:n.159G>C
ENST00000596390.1:n.195G>C
ENST00000601003.1:c.79G>C ENSP00000469074.1:p.Gly27Arg
NM_020533.2:c.79G>C NP_065394.1:p.Gly27Arg
NM_020533.3:c.79G>C MANE Select NP_065394.1:p.Gly27Arg