Canonical Allele Identifier: CA403081564
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526879T>G , CM000681.2:g.7526879T>G GRCh38
NC_000019.9:g.7591765T>G , CM000681.1:g.7591765T>G GRCh37
NC_000019.8:g.7497765T>G NCBI36
NG_015806.1:g.9270T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.524T>G MANE Select ENSP00000264079.5:p.Val175Gly
ENST00000264079.10:c.524T>G ENSP00000264079.5:p.Val175Gly
ENST00000394321.9:n.604T>G
ENST00000596008.1:n.486T>G
ENST00000598406.1:n.345T>G
ENST00000601003.1:c.524T>G ENSP00000469074.1:p.Val175Gly
NM_020533.2:c.524T>G NP_065394.1:p.Val175Gly
NM_020533.3:c.524T>G MANE Select NP_065394.1:p.Val175Gly