Canonical Allele Identifier: CA403082481
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527621T>G , CM000681.2:g.7527621T>G GRCh38
NC_000019.9:g.7592507T>G , CM000681.1:g.7592507T>G GRCh37
NC_000019.8:g.7498507T>G NCBI36
NG_015806.1:g.10012T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.673T>G MANE Select ENSP00000264079.5:p.Phe225Val
ENST00000264079.10:c.673T>G ENSP00000264079.5:p.Phe225Val
ENST00000394321.9:n.753T>G
ENST00000598406.1:n.494T>G
ENST00000601003.1:c.572-243T>G ENSP00000469074.1:n.572-243T>G
NM_020533.2:c.673T>G NP_065394.1:p.Phe225Val
NM_020533.3:c.673T>G MANE Select NP_065394.1:p.Phe225Val