Canonical Allele Identifier: CA9138981
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs376007058
ExAC: 19:7593626 C / T
gnomAD v2: 19-7593626-C-T
gnomAD v3: 19-7528740-C-T
gnomAD v4: 19-7528740-C-T
MyVariant Identifiers: chr19:g.7593626C>T (hg19) chr19:g.7528740C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528740C>T , CM000681.2:g.7528740C>T GRCh38
NC_000019.9:g.7593626C>T , CM000681.1:g.7593626C>T GRCh37
NC_000019.8:g.7499626C>T NCBI36
NG_015806.1:g.11131C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.984+37C>T MANE Select ENSP00000264079.5:n.984+37C>T
ENST00000264079.10:c.984+37C>T ENSP00000264079.5:n.984+37C>T
ENST00000394321.9:n.1299+37C>T
ENST00000595860.5:n.87C>T
NM_020533.2:c.984+37C>T NP_065394.1:n.984+37C>T
NM_020533.3:c.984+37C>T MANE Select NP_065394.1:n.984+37C>T
Search 100 bp 5'
Search 100 bp 3'