Canonical Allele Identifier: CA403085737
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528845C>A , CM000681.2:g.7528845C>A GRCh38
NC_000019.9:g.7593731C>A , CM000681.1:g.7593731C>A GRCh37
NC_000019.8:g.7499731C>A NCBI36
NG_015806.1:g.11236C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1009C>A MANE Select ENSP00000264079.5:p.Gln337Lys
ENST00000264079.10:c.1009C>A ENSP00000264079.5:p.Gln337Lys
ENST00000394321.9:n.1324C>A
ENST00000595860.5:n.192C>A
NM_020533.2:c.1009C>A NP_065394.1:p.Gln337Lys
NM_020533.3:c.1009C>A MANE Select NP_065394.1:p.Gln337Lys