Canonical Allele Identifier: CA403080671
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7591336T>G (hg19) chr19:g.7526450T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526450T>G , CM000681.2:g.7526450T>G GRCh38
NC_000019.9:g.7591336T>G , CM000681.1:g.7591336T>G GRCh37
NC_000019.8:g.7497336T>G NCBI36
NG_015806.1:g.8841T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.249T>G MANE Select ENSP00000264079.5:p.Phe83Leu
ENST00000264079.10:c.249T>G ENSP00000264079.5:p.Phe83Leu
ENST00000394321.9:n.329T>G
ENST00000596008.1:n.211T>G
ENST00000598406.1:n.70T>G
ENST00000601003.1:c.249T>G ENSP00000469074.1:p.Phe83Leu
NM_020533.2:c.249T>G NP_065394.1:p.Phe83Leu
NM_020533.3:c.249T>G MANE Select NP_065394.1:p.Phe83Leu
Search 100 bp 5'
Search 100 bp 3'