Canonical Allele Identifier: CA403086567
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7593991T>A (hg19) chr19:g.7529105T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529105T>A , CM000681.2:g.7529105T>A GRCh38
NC_000019.9:g.7593991T>A , CM000681.1:g.7593991T>A GRCh37
NC_000019.8:g.7499991T>A NCBI36
NG_015806.1:g.11496T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1139T>A MANE Select ENSP00000264079.5:p.Leu380Ter
ENST00000264079.10:c.1139T>A ENSP00000264079.5:p.Leu380Ter
ENST00000394321.9:n.1454T>A
ENST00000594692.1:n.135T>A
ENST00000595860.5:n.322T>A
ENST00000599334.1:c.16T>A
NM_020533.2:c.1139T>A NP_065394.1:p.Leu380Ter
NM_020533.3:c.1139T>A MANE Select NP_065394.1:p.Leu380Ter
Search 100 bp 5'
Search 100 bp 3'