Canonical Allele Identifier: CA505232082
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7589923A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525037A>T , CM000681.2:g.7525037A>T GRCh38
NC_000019.9:g.7589923A>T , CM000681.1:g.7589923A>T GRCh37
NC_000019.8:g.7495923A>T NCBI36
NG_015806.1:g.7428A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.108A>T MANE Select ENSP00000264079.5:p.Pro36=
ENST00000264079.10:c.108A>T ENSP00000264079.5:p.Pro36=
ENST00000394321.9:n.188A>T
ENST00000596390.1:n.224A>T
ENST00000601003.1:c.108A>T ENSP00000469074.1:p.Pro36=
NM_020533.2:c.108A>T NP_065394.1:p.Pro36=
NM_020533.3:c.108A>T MANE Select NP_065394.1:p.Pro36=