Canonical Allele Identifier: CA403083819
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7592767T>G (hg19) chr19:g.7527881T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527881T>G , CM000681.2:g.7527881T>G GRCh38
NC_000019.9:g.7592767T>G , CM000681.1:g.7592767T>G GRCh37
NC_000019.8:g.7498767T>G NCBI36
NG_015806.1:g.10272T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.698T>G MANE Select ENSP00000264079.5:p.Ile233Ser
ENST00000264079.10:c.698T>G ENSP00000264079.5:p.Ile233Ser
ENST00000394321.9:n.1013T>G
ENST00000601003.1:c.589T>G ENSP00000469074.1:p.Ser197Ala
NM_020533.2:c.698T>G NP_065394.1:p.Ile233Ser
NM_020533.3:c.698T>G MANE Select NP_065394.1:p.Ile233Ser
Search 100 bp 5'
Search 100 bp 3'