Canonical Allele Identifier: CA403081559
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7591763C>G (hg19) chr19:g.7526877C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526877C>G , CM000681.2:g.7526877C>G GRCh38
NC_000019.9:g.7591763C>G , CM000681.1:g.7591763C>G GRCh37
NC_000019.8:g.7497763C>G NCBI36
NG_015806.1:g.9268C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.522C>G MANE Select ENSP00000264079.5:p.His174Gln
ENST00000264079.10:c.522C>G ENSP00000264079.5:p.His174Gln
ENST00000394321.9:n.602C>G
ENST00000596008.1:n.484C>G
ENST00000598406.1:n.343C>G
ENST00000601003.1:c.522C>G ENSP00000469074.1:p.His174Gln
NM_020533.2:c.522C>G NP_065394.1:p.His174Gln
NM_020533.3:c.522C>G MANE Select NP_065394.1:p.His174Gln
Search 100 bp 5'
Search 100 bp 3'