Canonical Allele Identifier: CA403083918
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7527893-T-C
MyVariant Identifiers: chr19:g.7592779T>C (hg19) chr19:g.7527893T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527893T>C , CM000681.2:g.7527893T>C GRCh38
NC_000019.9:g.7592779T>C , CM000681.1:g.7592779T>C GRCh37
NC_000019.8:g.7498779T>C NCBI36
NG_015806.1:g.10284T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.710T>C MANE Select ENSP00000264079.5:p.Leu237Pro
ENST00000264079.10:c.710T>C ENSP00000264079.5:p.Leu237Pro
ENST00000394321.9:n.1025T>C
ENST00000601003.1:c.601T>C
NM_020533.2:c.710T>C NP_065394.1:p.Leu237Pro
NM_020533.3:c.710T>C MANE Select NP_065394.1:p.Leu237Pro
Search 100 bp 5'
Search 100 bp 3'