Canonical Allele Identifier: CA2320965664
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022719302
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533982G>A , CM000681.2:g.7533982G>A GRCh38
NC_000019.9:g.7598868G>A , CM000681.1:g.7598868G>A GRCh37
NC_000019.8:g.7504868G>A NCBI36
NG_013374.1:g.4831G>A
NG_015806.1:g.16373G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*187G>A MANE Select ENSP00000264079.5:n.*187G>A
ENST00000264079.10:c.*187G>A ENSP00000264079.5:n.*187G>A
ENST00000394321.9:n.2245G>A
ENST00000599334.1:c.658G>A
ENST00000601870.1:c.169+114G>A
ENST00000602227.1:n.484G>A
NM_020533.2:c.*187G>A NP_065394.1:n.*187G>A
NM_020533.3:c.*187G>A MANE Select NP_065394.1:n.*187G>A
Search 100 bp 5'
Search 100 bp 3'