Canonical Allele Identifier: CA993153909
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1599253856
gnomAD v3: 19-7527270-T-A
gnomAD v4: 19-7527270-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527270T>A , CM000681.2:g.7527270T>A GRCh38
NC_000019.9:g.7592156T>A , CM000681.1:g.7592156T>A GRCh37
NC_000019.8:g.7498156T>A NCBI36
NG_015806.1:g.9661T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.572-250T>A MANE Select ENSP00000264079.5:n.572-250T>A
ENST00000264079.10:c.572-250T>A ENSP00000264079.5:n.572-250T>A
ENST00000394321.9:n.652-250T>A
ENST00000598406.1:n.393-250T>A
ENST00000601003.1:c.571+344T>A ENSP00000469074.1:n.571+344T>A
NM_020533.2:c.572-250T>A NP_065394.1:n.572-250T>A
NM_020533.3:c.572-250T>A MANE Select NP_065394.1:n.572-250T>A
Search 100 bp 5'
Search 100 bp 3'