Canonical Allele Identifier: CA403086037
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs2022613006
gnomAD v3: 19-7528902-A-C
gnomAD v4: 19-7528902-A-C
MyVariant Identifiers: chr19:g.7593788A>C (hg19) chr19:g.7528902A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528902A>C , CM000681.2:g.7528902A>C GRCh38
NC_000019.9:g.7593788A>C , CM000681.1:g.7593788A>C GRCh37
NC_000019.8:g.7499788A>C NCBI36
NG_015806.1:g.11293A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1066A>C MANE Select ENSP00000264079.5:p.Ile356Leu
ENST00000264079.10:c.1066A>C ENSP00000264079.5:p.Ile356Leu
ENST00000394321.9:n.1381A>C
ENST00000595860.5:n.249A>C
NM_020533.2:c.1066A>C NP_065394.1:p.Ile356Leu
NM_020533.3:c.1066A>C MANE Select NP_065394.1:p.Ile356Leu
Search 100 bp 5'
Search 100 bp 3'