Canonical Allele Identifier: CA403152338
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs771709900
gnomAD v2: 19-7589852-G-T
gnomAD v3: 19-7524966-G-T
gnomAD v4: 19-7524966-G-T
MyVariant Identifiers: chr19:g.7589852G>T (hg19) chr19:g.7524966G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7524966G>T , CM000681.2:g.7524966G>T GRCh38
NC_000019.9:g.7589852G>T , CM000681.1:g.7589852G>T GRCh37
NC_000019.8:g.7495852G>T NCBI36
NG_015806.1:g.7357G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.37G>T MANE Select ENSP00000264079.5:p.Glu13Ter
ENST00000264079.10:c.37G>T ENSP00000264079.5:p.Glu13Ter
ENST00000394321.9:n.117G>T
ENST00000596390.1:n.153G>T
ENST00000601003.1:c.37G>T ENSP00000469074.1:p.Glu13Ter
NM_020533.2:c.37G>T NP_065394.1:p.Glu13Ter
XR_936293.2:n.15C>A
XR_936294.2:n.15C>A
NM_020533.3:c.37G>T MANE Select NP_065394.1:p.Glu13Ter
Search 100 bp 5'
Search 100 bp 3'