Canonical Allele Identifier: CA505233315
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7598420C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533534C>G , CM000681.2:g.7533534C>G GRCh38
NC_000019.9:g.7598420C>G , CM000681.1:g.7598420C>G GRCh37
NC_000019.8:g.7504420C>G NCBI36
NG_013374.1:g.4383C>G
NG_015806.1:g.15925C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1587C>G MANE Select ENSP00000264079.5:p.Gly529=
ENST00000264079.10:c.1587C>G ENSP00000264079.5:p.Gly529=
ENST00000394321.9:n.1902C>G
ENST00000599334.1:c.315C>G
ENST00000602227.1:n.141C>G
NM_020533.2:c.1587C>G NP_065394.1:p.Gly529=
NM_020533.3:c.1587C>G MANE Select NP_065394.1:p.Gly529=