Canonical Allele Identifier: CA403152357
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7524976T>G , CM000681.2:g.7524976T>G GRCh38
NC_000019.9:g.7589862T>G , CM000681.1:g.7589862T>G GRCh37
NC_000019.8:g.7495862T>G NCBI36
NG_015806.1:g.7367T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.47T>G MANE Select ENSP00000264079.5:p.Leu16Arg
ENST00000264079.10:c.47T>G ENSP00000264079.5:p.Leu16Arg
ENST00000394321.9:n.127T>G
ENST00000596390.1:n.163T>G
ENST00000601003.1:c.47T>G ENSP00000469074.1:p.Leu16Arg
NM_020533.2:c.47T>G NP_065394.1:p.Leu16Arg
XR_936293.2:n.5A>C
XR_936294.2:n.5A>C
NM_020533.3:c.47T>G MANE Select NP_065394.1:p.Leu16Arg