Canonical Allele Identifier: CA403091888
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1189133612
MyVariant Identifiers: chr19:g.7598538A>G (hg19) chr19:g.7533652A>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1705A>G MANE Select ENSP00000264079.5:p.Arg569Gly
ENST00000264079.10:c.1705A>G ENSP00000264079.5:p.Arg569Gly
ENST00000394321.9:n.2020A>G
ENST00000599334.1:c.433A>G
ENST00000601870.1:c.58A>G
ENST00000602227.1:n.259A>G
NM_020533.2:c.1705A>G NP_065394.1:p.Arg569Gly
NM_020533.3:c.1705A>G MANE Select NP_065394.1:p.Arg569Gly
Search 100 bp 5'
Search 100 bp 3'