Canonical Allele Identifier: CA505232028
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1599252279
MyVariant Identifiers: chr19:g.7589902A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525016A>G , CM000681.2:g.7525016A>G GRCh38
NC_000019.9:g.7589902A>G , CM000681.1:g.7589902A>G GRCh37
NC_000019.8:g.7495902A>G NCBI36
NG_015806.1:g.7407A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.87A>G MANE Select ENSP00000264079.5:p.Ser29=
ENST00000264079.10:c.87A>G ENSP00000264079.5:p.Ser29=
ENST00000394321.9:n.167A>G
ENST00000596390.1:n.203A>G
ENST00000601003.1:c.87A>G ENSP00000469074.1:p.Ser29=
NM_020533.2:c.87A>G NP_065394.1:p.Ser29=
NM_020533.3:c.87A>G MANE Select NP_065394.1:p.Ser29=
Search 100 bp 5'
Search 100 bp 3'