Canonical Allele Identifier: CA505230140
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7591760C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526874C>T , CM000681.2:g.7526874C>T GRCh38
NC_000019.9:g.7591760C>T , CM000681.1:g.7591760C>T GRCh37
NC_000019.8:g.7497760C>T NCBI36
NG_015806.1:g.9265C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.519C>T MANE Select ENSP00000264079.5:p.Gly173=
ENST00000264079.10:c.519C>T ENSP00000264079.5:p.Gly173=
ENST00000394321.9:n.599C>T
ENST00000596008.1:n.481C>T
ENST00000598406.1:n.340C>T
ENST00000601003.1:c.519C>T ENSP00000469074.1:p.Gly173=
NM_020533.2:c.519C>T NP_065394.1:p.Gly173=
NM_020533.3:c.519C>T MANE Select NP_065394.1:p.Gly173=