Canonical Allele Identifier: CA505233319
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7598423A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533537A>T , CM000681.2:g.7533537A>T GRCh38
NC_000019.9:g.7598423A>T , CM000681.1:g.7598423A>T GRCh37
NC_000019.8:g.7504423A>T NCBI36
NG_013374.1:g.4386A>T
NG_015806.1:g.15928A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1590A>T MANE Select ENSP00000264079.5:p.Ala530=
ENST00000264079.10:c.1590A>T ENSP00000264079.5:p.Ala530=
ENST00000394321.9:n.1905A>T
ENST00000599334.1:c.318A>T
ENST00000602227.1:n.144A>T
NM_020533.2:c.1590A>T NP_065394.1:p.Ala530=
NM_020533.3:c.1590A>T MANE Select NP_065394.1:p.Ala530=