Canonical Allele Identifier: CA9139278
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs749731498
ExAC: 19:7598784 T / G
gnomAD v2: 19-7598784-T-G
gnomAD v4: 19-7533898-T-G
MyVariant Identifiers: chr19:g.7598784T>G (hg19) chr19:g.7533898T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533898T>G , CM000681.2:g.7533898T>G GRCh38
NC_000019.9:g.7598784T>G , CM000681.1:g.7598784T>G GRCh37
NC_000019.8:g.7504784T>G NCBI36
NG_013374.1:g.4747T>G
NG_015806.1:g.16289T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*103T>G MANE Select ENSP00000264079.5:n.*103T>G
ENST00000264079.10:c.*103T>G ENSP00000264079.5:n.*103T>G
ENST00000394321.9:n.2161T>G
ENST00000599334.1:c.574T>G
ENST00000601870.1:c.169+30T>G
ENST00000602227.1:n.400T>G
NM_020533.2:c.*103T>G NP_065394.1:n.*103T>G
NM_020533.3:c.*103T>G MANE Select NP_065394.1:n.*103T>G
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