Canonical Allele Identifier: CA993156635
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022716582
gnomAD v3: 19-7533910-G-A
gnomAD v4: 19-7533910-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533910G>A , CM000681.2:g.7533910G>A GRCh38
NC_000019.9:g.7598796G>A , CM000681.1:g.7598796G>A GRCh37
NC_000019.8:g.7504796G>A NCBI36
NG_013374.1:g.4759G>A
NG_015806.1:g.16301G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*115G>A MANE Select ENSP00000264079.5:n.*115G>A
ENST00000264079.10:c.*115G>A ENSP00000264079.5:n.*115G>A
ENST00000394321.9:n.2173G>A
ENST00000599334.1:c.586G>A
ENST00000601870.1:c.169+42G>A
ENST00000602227.1:n.412G>A
NM_020533.2:c.*115G>A NP_065394.1:n.*115G>A
NM_020533.3:c.*115G>A MANE Select NP_065394.1:n.*115G>A
Search 100 bp 5'
Search 100 bp 3'