Canonical Allele Identifier: CA403082003
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7527541-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527541C>A , CM000681.2:g.7527541C>A GRCh38
NC_000019.9:g.7592427C>A , CM000681.1:g.7592427C>A GRCh37
NC_000019.8:g.7498427C>A NCBI36
NG_015806.1:g.9932C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.593C>A MANE Select ENSP00000264079.5:p.Pro198His
ENST00000264079.10:c.593C>A ENSP00000264079.5:p.Pro198His
ENST00000394321.9:n.673C>A
ENST00000598406.1:n.414C>A
ENST00000601003.1:c.572-323C>A ENSP00000469074.1:n.572-323C>A
NM_020533.2:c.593C>A NP_065394.1:p.Pro198His
NM_020533.3:c.593C>A MANE Select NP_065394.1:p.Pro198His