Canonical Allele Identifier: CA403081204
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526777A>G , CM000681.2:g.7526777A>G GRCh38
NC_000019.9:g.7591663A>G , CM000681.1:g.7591663A>G GRCh37
NC_000019.8:g.7497663A>G NCBI36
NG_015806.1:g.9168A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.422A>G MANE Select ENSP00000264079.5:p.Asp141Gly
ENST00000264079.10:c.422A>G ENSP00000264079.5:p.Asp141Gly
ENST00000394321.9:n.502A>G
ENST00000596008.1:n.384A>G
ENST00000598406.1:n.243A>G
ENST00000601003.1:c.422A>G ENSP00000469074.1:p.Asp141Gly
NM_020533.2:c.422A>G NP_065394.1:p.Asp141Gly
NM_020533.3:c.422A>G MANE Select NP_065394.1:p.Asp141Gly