Canonical Allele Identifier: CA505232105
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7589941C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525055C>T , CM000681.2:g.7525055C>T GRCh38
NC_000019.9:g.7589941C>T , CM000681.1:g.7589941C>T GRCh37
NC_000019.8:g.7495941C>T NCBI36
NG_015806.1:g.7446C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.126C>T MANE Select ENSP00000264079.5:p.Arg42=
ENST00000264079.10:c.126C>T ENSP00000264079.5:p.Arg42=
ENST00000394321.9:n.206C>T
ENST00000596390.1:n.242C>T
ENST00000601003.1:c.126C>T ENSP00000469074.1:p.Arg42=
NM_020533.2:c.126C>T NP_065394.1:p.Arg42=
NM_020533.3:c.126C>T MANE Select NP_065394.1:p.Arg42=