Canonical Allele Identifier: CA403153032
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7590053G>C (hg19) chr19:g.7525167G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525167G>C , CM000681.2:g.7525167G>C GRCh38
NC_000019.9:g.7590053G>C , CM000681.1:g.7590053G>C GRCh37
NC_000019.8:g.7496053G>C NCBI36
NG_015806.1:g.7558G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.237+1G>C MANE Select ENSP00000264079.5:n.237+1G>C
ENST00000264079.10:c.237+1G>C ENSP00000264079.5:n.237+1G>C
ENST00000394321.9:n.317+1G>C
ENST00000596390.1:n.354G>C
ENST00000601003.1:c.237+1G>C ENSP00000469074.1:n.237+1G>C
NM_020533.2:c.237+1G>C NP_065394.1:n.237+1G>C
NM_020533.3:c.237+1G>C MANE Select NP_065394.1:n.237+1G>C
Search 100 bp 5'
Search 100 bp 3'