Canonical Allele Identifier: CA884206150
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1248281450
gnomAD v3: 19-7533980-G-T
gnomAD v4: 19-7533980-G-T
MyVariant Identifiers: chr19:g.7598866G>T (hg19) chr19:g.7533980G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533980G>T , CM000681.2:g.7533980G>T GRCh38
NC_000019.9:g.7598866G>T , CM000681.1:g.7598866G>T GRCh37
NC_000019.8:g.7504866G>T NCBI36
NG_013374.1:g.4829G>T
NG_015806.1:g.16371G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.*185G>T MANE Select ENSP00000264079.5:n.*185G>T
ENST00000264079.10:c.*185G>T ENSP00000264079.5:n.*185G>T
ENST00000394321.9:n.2243G>T
ENST00000599334.1:c.656G>T
ENST00000601870.1:c.169+112G>T
ENST00000602227.1:n.482G>T
NM_020533.2:c.*185G>T NP_065394.1:n.*185G>T
NM_020533.3:c.*185G>T MANE Select NP_065394.1:n.*185G>T
Search 100 bp 5'
Search 100 bp 3'