Canonical Allele Identifier: CA2320962068
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022581487
gnomAD v4: 19-7526993-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526993G>C , CM000681.2:g.7526993G>C GRCh38
NC_000019.9:g.7591879G>C , CM000681.1:g.7591879G>C GRCh37
NC_000019.8:g.7497879G>C NCBI36
NG_015806.1:g.9384G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.571+67G>C MANE Select ENSP00000264079.5:n.571+67G>C
ENST00000264079.10:c.571+67G>C ENSP00000264079.5:n.571+67G>C
ENST00000394321.9:n.651+67G>C
ENST00000596008.1:n.600G>C
ENST00000598406.1:n.392+67G>C
ENST00000601003.1:c.571+67G>C ENSP00000469074.1:n.571+67G>C
NM_020533.2:c.571+67G>C NP_065394.1:n.571+67G>C
NM_020533.3:c.571+67G>C MANE Select NP_065394.1:n.571+67G>C
Search 100 bp 5'
Search 100 bp 3'