Canonical Allele Identifier: CA403085588
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7528702-A-T
MyVariant Identifiers: chr19:g.7593588A>T (hg19) chr19:g.7528702A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528702A>T , CM000681.2:g.7528702A>T GRCh38
NC_000019.9:g.7593588A>T , CM000681.1:g.7593588A>T GRCh37
NC_000019.8:g.7499588A>T NCBI36
NG_015806.1:g.11093A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.983A>T MANE Select ENSP00000264079.5:p.Asn328Ile
ENST00000264079.10:c.983A>T ENSP00000264079.5:p.Asn328Ile
ENST00000394321.9:n.1298A>T
ENST00000595860.5:n.49A>T
NM_020533.2:c.983A>T NP_065394.1:p.Asn328Ile
NM_020533.3:c.983A>T MANE Select NP_065394.1:p.Asn328Ile
Search 100 bp 5'
Search 100 bp 3'