Canonical Allele Identifier: CA403092031
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533773A>T , CM000681.2:g.7533773A>T GRCh38
NC_000019.9:g.7598659A>T , CM000681.1:g.7598659A>T GRCh37
NC_000019.8:g.7504659A>T NCBI36
NG_013374.1:g.4622A>T
NG_015806.1:g.16164A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1721A>T MANE Select ENSP00000264079.5:p.Glu574Val
ENST00000264079.10:c.1721A>T ENSP00000264079.5:p.Glu574Val
ENST00000394321.9:n.2036A>T
ENST00000599334.1:c.449A>T
ENST00000601870.1:c.74A>T
ENST00000602227.1:n.275A>T
NM_020533.2:c.1721A>T NP_065394.1:p.Glu574Val
NM_020533.3:c.1721A>T MANE Select NP_065394.1:p.Glu574Val