Canonical Allele Identifier: CA631462825
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1265773324
gnomAD v2: 19-7592741-C-G
gnomAD v4: 19-7527855-C-G
MyVariant Identifiers: chr19:g.7592741C>G (hg19) chr19:g.7527855C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527855C>G , CM000681.2:g.7527855C>G GRCh38
NC_000019.9:g.7592741C>G , CM000681.1:g.7592741C>G GRCh37
NC_000019.8:g.7498741C>G NCBI36
NG_015806.1:g.10246C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.681-9C>G MANE Select ENSP00000264079.5:n.681-9C>G
ENST00000264079.10:c.681-9C>G ENSP00000264079.5:n.681-9C>G
ENST00000394321.9:n.987C>G
ENST00000601003.1:c.572-9C>G ENSP00000469074.1:n.572-9C>G
NM_020533.2:c.681-9C>G NP_065394.1:n.681-9C>G
NM_020533.3:c.681-9C>G MANE Select NP_065394.1:n.681-9C>G
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