Canonical Allele Identifier: CA9138996
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs778371056
ExAC: 19:7593723 T / C
gnomAD v2: 19-7593723-T-C
gnomAD v3: 19-7528837-T-C
gnomAD v4: 19-7528837-T-C
MyVariant Identifiers: chr19:g.7593723T>C (hg19) chr19:g.7528837T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528837T>C , CM000681.2:g.7528837T>C GRCh38
NC_000019.9:g.7593723T>C , CM000681.1:g.7593723T>C GRCh37
NC_000019.8:g.7499723T>C NCBI36
NG_015806.1:g.11228T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1001T>C MANE Select ENSP00000264079.5:p.Met334Thr
ENST00000264079.10:c.1001T>C ENSP00000264079.5:p.Met334Thr
ENST00000394321.9:n.1316T>C
ENST00000595860.5:n.184T>C
NM_020533.2:c.1001T>C NP_065394.1:p.Met334Thr
NM_020533.3:c.1001T>C MANE Select NP_065394.1:p.Met334Thr
Search 100 bp 5'
Search 100 bp 3'