Canonical Allele Identifier: CA505229889
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7591694T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526808T>G , CM000681.2:g.7526808T>G GRCh38
NC_000019.9:g.7591694T>G , CM000681.1:g.7591694T>G GRCh37
NC_000019.8:g.7497694T>G NCBI36
NG_015806.1:g.9199T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.453T>G MANE Select ENSP00000264079.5:p.Arg151=
ENST00000264079.10:c.453T>G ENSP00000264079.5:p.Arg151=
ENST00000394321.9:n.533T>G
ENST00000596008.1:n.415T>G
ENST00000598406.1:n.274T>G
ENST00000601003.1:c.453T>G ENSP00000469074.1:p.Arg151=
NM_020533.2:c.453T>G NP_065394.1:p.Arg151=
NM_020533.3:c.453T>G MANE Select NP_065394.1:p.Arg151=