Canonical Allele Identifier: CA403086169
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7528922-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528922T>A , CM000681.2:g.7528922T>A GRCh38
NC_000019.9:g.7593808T>A , CM000681.1:g.7593808T>A GRCh37
NC_000019.8:g.7499808T>A NCBI36
NG_015806.1:g.11313T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1086T>A MANE Select ENSP00000264079.5:p.Asp362Glu
ENST00000264079.10:c.1086T>A ENSP00000264079.5:p.Asp362Glu
ENST00000394321.9:n.1401T>A
ENST00000595860.5:n.269T>A
NM_020533.2:c.1086T>A NP_065394.1:p.Asp362Glu
NM_020533.3:c.1086T>A MANE Select NP_065394.1:p.Asp362Glu