Canonical Allele Identifier: CA403087485
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529627T>A , CM000681.2:g.7529627T>A GRCh38
NC_000019.9:g.7594513T>A , CM000681.1:g.7594513T>A GRCh37
NC_000019.8:g.7500513T>A NCBI36
NG_013374.1:g.476T>A
NG_015806.1:g.12018T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1274T>A MANE Select ENSP00000264079.5:p.Val425Asp
ENST00000264079.10:c.1274T>A ENSP00000264079.5:p.Val425Asp
ENST00000394321.9:n.1589T>A
ENST00000594692.1:n.270T>A
ENST00000595860.5:n.457T>A
ENST00000599334.1:c.151T>A
NM_020533.2:c.1274T>A NP_065394.1:p.Val425Asp
NM_020533.3:c.1274T>A MANE Select NP_065394.1:p.Val425Asp