Canonical Allele Identifier: CA9138995
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 739526
ClinVar RCV Id: RCV000915499
dbSNP Id: rs141240937
ExAC: 19:7593722 A / G
gnomAD v2: 19-7593722-A-G
gnomAD v3: 19-7528836-A-G
gnomAD v4: 19-7528836-A-G
MyVariant Identifiers: chr19:g.7593722A>G (hg19) chr19:g.7528836A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528836A>G , CM000681.2:g.7528836A>G GRCh38
NC_000019.9:g.7593722A>G , CM000681.1:g.7593722A>G GRCh37
NC_000019.8:g.7499722A>G NCBI36
NG_015806.1:g.11227A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1000A>G MANE Select ENSP00000264079.5:p.Met334Val
ENST00000264079.10:c.1000A>G ENSP00000264079.5:p.Met334Val
ENST00000394321.9:n.1315A>G
ENST00000595860.5:n.183A>G
NM_020533.2:c.1000A>G NP_065394.1:p.Met334Val
NM_020533.3:c.1000A>G MANE Select NP_065394.1:p.Met334Val
Search 100 bp 5'
Search 100 bp 3'