Canonical Allele Identifier: CA403152998
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525150T>A , CM000681.2:g.7525150T>A GRCh38
NC_000019.9:g.7590036T>A , CM000681.1:g.7590036T>A GRCh37
NC_000019.8:g.7496036T>A NCBI36
NG_015806.1:g.7541T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.221T>A MANE Select ENSP00000264079.5:p.Leu74Gln
ENST00000264079.10:c.221T>A ENSP00000264079.5:p.Leu74Gln
ENST00000394321.9:n.301T>A
ENST00000596390.1:n.337T>A
ENST00000601003.1:c.221T>A ENSP00000469074.1:p.Leu74Gln
NM_020533.2:c.221T>A NP_065394.1:p.Leu74Gln
NM_020533.3:c.221T>A MANE Select NP_065394.1:p.Leu74Gln