Canonical Allele Identifier: CA913046759
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7592852dup (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527966dup , CM000681.2:g.7527966dup GRCh38
NC_000019.9:g.7592852dup , CM000681.1:g.7592852dup GRCh37
NC_000019.8:g.7498852dup NCBI36
NG_015806.1:g.10357dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.777+6dup MANE Select ENSP00000264079.5:n.777+6dup
ENST00000264079.10:c.777+6dup ENSP00000264079.5:n.777+6dup
ENST00000394321.9:n.1092+6dup
NM_020533.2:c.777+6dup NP_065394.1:n.777+6dup
NM_020533.3:c.777+6dup MANE Select NP_065394.1:n.777+6dup