Canonical Allele Identifier: CA631462814
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1273347973
gnomAD v2: 19-7592652-T-C
gnomAD v4: 19-7527766-T-C
MyVariant Identifiers: chr19:g.7592652T>C (hg19) chr19:g.7527766T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527766T>C , CM000681.2:g.7527766T>C GRCh38
NC_000019.9:g.7592652T>C , CM000681.1:g.7592652T>C GRCh37
NC_000019.8:g.7498652T>C NCBI36
NG_015806.1:g.10157T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.681-98T>C MANE Select ENSP00000264079.5:n.681-98T>C
ENST00000264079.10:c.681-98T>C ENSP00000264079.5:n.681-98T>C
ENST00000394321.9:n.898T>C
ENST00000598406.1:n.639T>C
ENST00000601003.1:c.572-98T>C ENSP00000469074.1:n.572-98T>C
NM_020533.2:c.681-98T>C NP_065394.1:n.681-98T>C
NM_020533.3:c.681-98T>C MANE Select NP_065394.1:n.681-98T>C
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