Canonical Allele Identifier: CA403089207
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7595206T>C (hg19) chr19:g.7530320T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530320T>C , CM000681.2:g.7530320T>C GRCh38
NC_000019.9:g.7595206T>C , CM000681.1:g.7595206T>C GRCh37
NC_000019.8:g.7501206T>C NCBI36
NG_013374.1:g.1169T>C
NG_015806.1:g.12711T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1394T>C MANE Select ENSP00000264079.5:p.Phe465Ser
ENST00000264079.10:c.1394T>C ENSP00000264079.5:p.Phe465Ser
ENST00000394321.9:n.1709T>C
ENST00000594692.1:n.390T>C
ENST00000595860.5:n.577T>C
ENST00000599334.1:c.237-115T>C
NM_020533.2:c.1394T>C NP_065394.1:p.Phe465Ser
NM_020533.3:c.1394T>C MANE Select NP_065394.1:p.Phe465Ser
Search 100 bp 5'
Search 100 bp 3'