Canonical Allele Identifier: CA993153370
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022567488
gnomAD v3: 19-7526351-C-T
gnomAD v4: 19-7526351-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526351C>T , CM000681.2:g.7526351C>T GRCh38
NC_000019.9:g.7591237C>T , CM000681.1:g.7591237C>T GRCh37
NC_000019.8:g.7497237C>T NCBI36
NG_015806.1:g.8742C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.238-88C>T MANE Select ENSP00000264079.5:n.238-88C>T
ENST00000264079.10:c.238-88C>T ENSP00000264079.5:n.238-88C>T
ENST00000394321.9:n.318-88C>T
ENST00000596008.1:n.112C>T
ENST00000601003.1:c.238-88C>T ENSP00000469074.1:n.238-88C>T
NM_020533.2:c.238-88C>T NP_065394.1:n.238-88C>T
NM_020533.3:c.238-88C>T MANE Select NP_065394.1:n.238-88C>T
Search 100 bp 5'
Search 100 bp 3'