Canonical Allele Identifier: CA9139266
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs764159698
ExAC: 19:7598730 C / T
gnomAD v2: 19-7598730-C-T
gnomAD v3: 19-7533844-C-T
gnomAD v4: 19-7533844-C-T
MyVariant Identifiers: chr19:g.7598730C>T (hg19) chr19:g.7533844C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533844C>T , CM000681.2:g.7533844C>T GRCh38
NC_000019.9:g.7598730C>T , CM000681.1:g.7598730C>T GRCh37
NC_000019.8:g.7504730C>T NCBI36
NG_013374.1:g.4693C>T
NG_015806.1:g.16235C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*49C>T MANE Select ENSP00000264079.5:n.*49C>T
ENST00000264079.10:c.*49C>T ENSP00000264079.5:n.*49C>T
ENST00000394321.9:n.2107C>T
ENST00000599334.1:c.520C>T
ENST00000601870.1:c.145C>T
ENST00000602227.1:n.346C>T
NM_020533.2:c.*49C>T NP_065394.1:n.*49C>T
NM_020533.3:c.*49C>T MANE Select NP_065394.1:n.*49C>T
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