Canonical Allele Identifier: CA9138896
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs780011790
ExAC: 19:7592854 C / CT
gnomAD v2: 19-7592854-C-CT
gnomAD v3: 19-7527968-C-CT
gnomAD v4: 19-7527968-C-CT
MyVariant Identifiers: chr19:g.7592854_7592855insT (hg19) chr19:g.7527968_7527969insT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527968_7527969insT , CM000681.2:g.7527968_7527969insT GRCh38
NC_000019.9:g.7592854_7592855insT , CM000681.1:g.7592854_7592855insT GRCh37
NC_000019.8:g.7498854_7498855insT NCBI36
NG_015806.1:g.10359_10360insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.777+8_777+9insT MANE Select ENSP00000264079.5:n.777+8_777+9insT
ENST00000264079.10:c.777+8_777+9insT ENSP00000264079.5:n.777+8_777+9insT
ENST00000394321.9:n.1092+8_1092+9insT
NM_020533.2:c.777+8_777+9insT NP_065394.1:n.777+8_777+9insT
NM_020533.3:c.777+8_777+9insT MANE Select NP_065394.1:n.777+8_777+9insT
Search 100 bp 5'
Search 100 bp 3'