Canonical Allele Identifier: CA403153023
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525164C>A , CM000681.2:g.7525164C>A GRCh38
NC_000019.9:g.7590050C>A , CM000681.1:g.7590050C>A GRCh37
NC_000019.8:g.7496050C>A NCBI36
NG_015806.1:g.7555C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.235C>A MANE Select ENSP00000264079.5:p.Gln79Lys
ENST00000264079.10:c.235C>A ENSP00000264079.5:p.Gln79Lys
ENST00000394321.9:n.315C>A
ENST00000596390.1:n.351C>A
ENST00000601003.1:c.235C>A ENSP00000469074.1:p.Gln79Lys
NM_020533.2:c.235C>A NP_065394.1:p.Gln79Lys
NM_020533.3:c.235C>A MANE Select NP_065394.1:p.Gln79Lys