Canonical Allele Identifier: CA2320965652
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022718667
gnomAD v4: 19-7533964-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533964A>C , CM000681.2:g.7533964A>C GRCh38
NC_000019.9:g.7598850A>C , CM000681.1:g.7598850A>C GRCh37
NC_000019.8:g.7504850A>C NCBI36
NG_013374.1:g.4813A>C
NG_015806.1:g.16355A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*169A>C MANE Select ENSP00000264079.5:n.*169A>C
ENST00000264079.10:c.*169A>C ENSP00000264079.5:n.*169A>C
ENST00000394321.9:n.2227A>C
ENST00000599334.1:c.640A>C
ENST00000601870.1:c.169+96A>C
ENST00000602227.1:n.466A>C
NM_020533.2:c.*169A>C NP_065394.1:n.*169A>C
NM_020533.3:c.*169A>C MANE Select NP_065394.1:n.*169A>C
Search 100 bp 5'
Search 100 bp 3'