Canonical Allele Identifier: CA403081406
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7591718T>A (hg19) chr19:g.7526832T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526832T>A , CM000681.2:g.7526832T>A GRCh38
NC_000019.9:g.7591718T>A , CM000681.1:g.7591718T>A GRCh37
NC_000019.8:g.7497718T>A NCBI36
NG_015806.1:g.9223T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.477T>A MANE Select ENSP00000264079.5:p.Asn159Lys
ENST00000264079.10:c.477T>A ENSP00000264079.5:p.Asn159Lys
ENST00000394321.9:n.557T>A
ENST00000596008.1:n.439T>A
ENST00000598406.1:n.298T>A
ENST00000601003.1:c.477T>A ENSP00000469074.1:p.Asn159Lys
NM_020533.2:c.477T>A NP_065394.1:p.Asn159Lys
NM_020533.3:c.477T>A MANE Select NP_065394.1:p.Asn159Lys
Search 100 bp 5'
Search 100 bp 3'