Canonical Allele Identifier: CA993153860
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1599253854
gnomAD v3: 19-7527262-A-C
gnomAD v4: 19-7527262-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527262A>C , CM000681.2:g.7527262A>C GRCh38
NC_000019.9:g.7592148A>C , CM000681.1:g.7592148A>C GRCh37
NC_000019.8:g.7498148A>C NCBI36
NG_015806.1:g.9653A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.572-258A>C MANE Select ENSP00000264079.5:n.572-258A>C
ENST00000264079.10:c.572-258A>C ENSP00000264079.5:n.572-258A>C
ENST00000394321.9:n.652-258A>C
ENST00000598406.1:n.393-258A>C
ENST00000601003.1:c.571+336A>C ENSP00000469074.1:n.571+336A>C
NM_020533.2:c.572-258A>C NP_065394.1:n.572-258A>C
NM_020533.3:c.572-258A>C MANE Select NP_065394.1:n.572-258A>C
Search 100 bp 5'
Search 100 bp 3'