Canonical Allele Identifier: CA403081894
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1213948404
gnomAD v3: 19-7527526-T-C
gnomAD v4: 19-7527526-T-C
MyVariant Identifiers: chr19:g.7592412T>C (hg19) chr19:g.7527526T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527526T>C , CM000681.2:g.7527526T>C GRCh38
NC_000019.9:g.7592412T>C , CM000681.1:g.7592412T>C GRCh37
NC_000019.8:g.7498412T>C NCBI36
NG_015806.1:g.9917T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.578T>C MANE Select ENSP00000264079.5:p.Ile193Thr
ENST00000264079.10:c.578T>C ENSP00000264079.5:p.Ile193Thr
ENST00000394321.9:n.658T>C
ENST00000598406.1:n.399T>C
ENST00000601003.1:c.572-338T>C ENSP00000469074.1:n.572-338T>C
NM_020533.2:c.578T>C NP_065394.1:p.Ile193Thr
NM_020533.3:c.578T>C MANE Select NP_065394.1:p.Ile193Thr
Search 100 bp 5'
Search 100 bp 3'