Canonical Allele Identifier: CA403085740
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1009C>T MANE Select ENSP00000264079.5:p.Gln337Ter
ENST00000264079.10:c.1009C>T ENSP00000264079.5:p.Gln337Ter
ENST00000394321.9:n.1324C>T
ENST00000595860.5:n.192C>T
NM_020533.2:c.1009C>T NP_065394.1:p.Gln337Ter
NM_020533.3:c.1009C>T MANE Select NP_065394.1:p.Gln337Ter