Canonical Allele Identifier: CA993156695
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022719383
gnomAD v3: 19-7533983-A-T
gnomAD v4: 19-7533983-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533983A>T , CM000681.2:g.7533983A>T GRCh38
NC_000019.9:g.7598869A>T , CM000681.1:g.7598869A>T GRCh37
NC_000019.8:g.7504869A>T NCBI36
NG_013374.1:g.4832A>T
NG_015806.1:g.16374A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*188A>T MANE Select ENSP00000264079.5:n.*188A>T
ENST00000264079.10:c.*188A>T ENSP00000264079.5:n.*188A>T
ENST00000394321.9:n.2246A>T
ENST00000599334.1:c.659A>T
ENST00000601870.1:c.169+115A>T
ENST00000602227.1:n.485A>T
NM_020533.2:c.*188A>T NP_065394.1:n.*188A>T
NM_020533.3:c.*188A>T MANE Select NP_065394.1:n.*188A>T
Search 100 bp 5'
Search 100 bp 3'