Canonical Allele Identifier: CA403091556
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7598469G>C (hg19) chr19:g.7533583G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533583G>C , CM000681.2:g.7533583G>C GRCh38
NC_000019.9:g.7598469G>C , CM000681.1:g.7598469G>C GRCh37
NC_000019.8:g.7504469G>C NCBI36
NG_013374.1:g.4432G>C
NG_015806.1:g.15974G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1636G>C MANE Select ENSP00000264079.5:p.Asp546His
ENST00000264079.10:c.1636G>C ENSP00000264079.5:p.Asp546His
ENST00000394321.9:n.1951G>C
ENST00000599334.1:c.364G>C
ENST00000602227.1:n.190G>C
NM_020533.2:c.1636G>C NP_065394.1:p.Asp546His
NM_020533.3:c.1636G>C MANE Select NP_065394.1:p.Asp546His
Search 100 bp 5'
Search 100 bp 3'