Canonical Allele Identifier: CA403081558
Gene: MCOLN1 HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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