Canonical Allele Identifier: CA403081495
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7591741A>C (hg19) chr19:g.7526855A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526855A>C , CM000681.2:g.7526855A>C GRCh38
NC_000019.9:g.7591741A>C , CM000681.1:g.7591741A>C GRCh37
NC_000019.8:g.7497741A>C NCBI36
NG_015806.1:g.9246A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.500A>C MANE Select ENSP00000264079.5:p.Gln167Pro
ENST00000264079.10:c.500A>C ENSP00000264079.5:p.Gln167Pro
ENST00000394321.9:n.580A>C
ENST00000596008.1:n.462A>C
ENST00000598406.1:n.321A>C
ENST00000601003.1:c.500A>C ENSP00000469074.1:p.Gln167Pro
NM_020533.2:c.500A>C NP_065394.1:p.Gln167Pro
NM_020533.3:c.500A>C MANE Select NP_065394.1:p.Gln167Pro
Search 100 bp 5'
Search 100 bp 3'