Canonical Allele Identifier: CA403091585
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1233533655
gnomAD v2: 19-7598474-C-A
gnomAD v4: 19-7533588-C-A
MyVariant Identifiers: chr19:g.7598474C>A (hg19) chr19:g.7533588C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533588C>A , CM000681.2:g.7533588C>A GRCh38
NC_000019.9:g.7598474C>A , CM000681.1:g.7598474C>A GRCh37
NC_000019.8:g.7504474C>A NCBI36
NG_013374.1:g.4437C>A
NG_015806.1:g.15979C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1641C>A MANE Select ENSP00000264079.5:p.Ser547Arg
ENST00000264079.10:c.1641C>A ENSP00000264079.5:p.Ser547Arg
ENST00000394321.9:n.1956C>A
ENST00000599334.1:c.369C>A
ENST00000602227.1:n.195C>A
NM_020533.2:c.1641C>A NP_065394.1:p.Ser547Arg
NM_020533.3:c.1641C>A MANE Select NP_065394.1:p.Ser547Arg
Search 100 bp 5'
Search 100 bp 3'