Canonical Allele Identifier: CA505233417
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1189133612
gnomAD v2: 19-7598538-A-C
gnomAD v4: 19-7533652-A-C
MyVariant Identifiers: chr19:g.7598538A>C (hg19) chr19:g.7533652A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533652A>C , CM000681.2:g.7533652A>C GRCh38
NC_000019.9:g.7598538A>C , CM000681.1:g.7598538A>C GRCh37
NC_000019.8:g.7504538A>C NCBI36
NG_013374.1:g.4501A>C
NG_015806.1:g.16043A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1705A>C MANE Select ENSP00000264079.5:p.Arg569=
ENST00000264079.10:c.1705A>C ENSP00000264079.5:p.Arg569=
ENST00000394321.9:n.2020A>C
ENST00000599334.1:c.433A>C
ENST00000601870.1:c.58A>C
ENST00000602227.1:n.259A>C
NM_020533.2:c.1705A>C NP_065394.1:p.Arg569=
NM_020533.3:c.1705A>C MANE Select NP_065394.1:p.Arg569=
Search 100 bp 5'
Search 100 bp 3'