Canonical Allele Identifier: CA403086650
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs368892419
MyVariant Identifiers: chr19:g.7594002G>C (hg19) chr19:g.7529116G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529116G>C , CM000681.2:g.7529116G>C GRCh38
NC_000019.9:g.7594002G>C , CM000681.1:g.7594002G>C GRCh37
NC_000019.8:g.7500002G>C NCBI36
NG_015806.1:g.11507G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1150G>C MANE Select ENSP00000264079.5:p.Asp384His
ENST00000264079.10:c.1150G>C ENSP00000264079.5:p.Asp384His
ENST00000394321.9:n.1465G>C
ENST00000594692.1:n.146G>C
ENST00000595860.5:n.333G>C
ENST00000599334.1:c.27G>C
NM_020533.2:c.1150G>C NP_065394.1:p.Asp384His
NM_020533.3:c.1150G>C MANE Select NP_065394.1:p.Asp384His
Search 100 bp 5'
Search 100 bp 3'