Canonical Allele Identifier: CA2320963025
Gene: MCOLN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528882A= , CM000681.2:g.7528882A= GRCh38
NC_000019.9:g.7593768A= , CM000681.1:g.7593768A= GRCh37
NC_000019.8:g.7499768A= NCBI36
NG_015806.1:g.11273A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1046A= MANE Select ENSP00000264079.5:p.Glu349=
ENST00000264079.10:c.1046A= ENSP00000264079.5:p.Glu349=
ENST00000394321.9:n.1361A=
ENST00000595860.5:n.229A=
NM_020533.2:c.1046A= NP_065394.1:p.Glu349=
NM_020533.3:c.1046A= MANE Select NP_065394.1:p.Glu349=
Search 100 bp 5'
Search 100 bp 3'