Canonical Allele Identifier: CA505232258
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7590025G>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525139G>C , CM000681.2:g.7525139G>C GRCh38
NC_000019.9:g.7590025G>C , CM000681.1:g.7590025G>C GRCh37
NC_000019.8:g.7496025G>C NCBI36
NG_015806.1:g.7530G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.210G>C MANE Select ENSP00000264079.5:p.Val70=
ENST00000264079.10:c.210G>C ENSP00000264079.5:p.Val70=
ENST00000394321.9:n.290G>C
ENST00000596390.1:n.326G>C
ENST00000601003.1:c.210G>C ENSP00000469074.1:p.Val70=
NM_020533.2:c.210G>C NP_065394.1:p.Val70=
NM_020533.3:c.210G>C MANE Select NP_065394.1:p.Val70=
Search 100 bp 5'
Search 100 bp 3'