Canonical Allele Identifier: CA505230833
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7592846G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527960G>A , CM000681.2:g.7527960G>A GRCh38
NC_000019.9:g.7592846G>A , CM000681.1:g.7592846G>A GRCh37
NC_000019.8:g.7498846G>A NCBI36
NG_015806.1:g.10351G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.777G>A MANE Select ENSP00000264079.5:p.Leu259=
ENST00000264079.10:c.777G>A ENSP00000264079.5:p.Leu259=
ENST00000394321.9:n.1092G>A
NM_020533.2:c.777G>A NP_065394.1:p.Leu259=
NM_020533.3:c.777G>A MANE Select NP_065394.1:p.Leu259=