Canonical Allele Identifier: CA2320962189
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022584198
gnomAD v4: 19-7527215-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527215T>C , CM000681.2:g.7527215T>C GRCh38
NC_000019.9:g.7592101T>C , CM000681.1:g.7592101T>C GRCh37
NC_000019.8:g.7498101T>C NCBI36
NG_015806.1:g.9606T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.571+289T>C MANE Select ENSP00000264079.5:n.571+289T>C
ENST00000264079.10:c.571+289T>C ENSP00000264079.5:n.571+289T>C
ENST00000394321.9:n.651+289T>C
ENST00000598406.1:n.392+289T>C
ENST00000601003.1:c.571+289T>C ENSP00000469074.1:n.571+289T>C
NM_020533.2:c.571+289T>C NP_065394.1:n.571+289T>C
NM_020533.3:c.571+289T>C MANE Select NP_065394.1:n.571+289T>C
Search 100 bp 5'
Search 100 bp 3'