Canonical Allele Identifier: CA505232069
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7589917A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525031A>T , CM000681.2:g.7525031A>T GRCh38
NC_000019.9:g.7589917A>T , CM000681.1:g.7589917A>T GRCh37
NC_000019.8:g.7495917A>T NCBI36
NG_015806.1:g.7422A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.102A>T MANE Select ENSP00000264079.5:p.Thr34=
ENST00000264079.10:c.102A>T ENSP00000264079.5:p.Thr34=
ENST00000394321.9:n.182A>T
ENST00000596390.1:n.218A>T
ENST00000601003.1:c.102A>T ENSP00000469074.1:p.Thr34=
NM_020533.2:c.102A>T NP_065394.1:p.Thr34=
NM_020533.3:c.102A>T MANE Select NP_065394.1:p.Thr34=