Canonical Allele Identifier: CA2320962621
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022597850
gnomAD v4: 19-7528044-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528044G>A , CM000681.2:g.7528044G>A GRCh38
NC_000019.9:g.7592930G>A , CM000681.1:g.7592930G>A GRCh37
NC_000019.8:g.7498930G>A NCBI36
NG_015806.1:g.10435G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.777+84G>A MANE Select ENSP00000264079.5:n.777+84G>A
ENST00000264079.10:c.777+84G>A ENSP00000264079.5:n.777+84G>A
ENST00000394321.9:n.1092+84G>A
NM_020533.2:c.777+84G>A NP_065394.1:n.777+84G>A
NM_020533.3:c.777+84G>A MANE Select NP_065394.1:n.777+84G>A
Search 100 bp 5'
Search 100 bp 3'