Canonical Allele Identifier: CA403084054
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7527914-G-T
MyVariant Identifiers: chr19:g.7592800G>T (hg19) chr19:g.7527914G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527914G>T , CM000681.2:g.7527914G>T GRCh38
NC_000019.9:g.7592800G>T , CM000681.1:g.7592800G>T GRCh37
NC_000019.8:g.7498800G>T NCBI36
NG_015806.1:g.10305G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.731G>T MANE Select ENSP00000264079.5:p.Ser244Ile
ENST00000264079.10:c.731G>T ENSP00000264079.5:p.Ser244Ile
ENST00000394321.9:n.1046G>T
NM_020533.2:c.731G>T NP_065394.1:p.Ser244Ile
NM_020533.3:c.731G>T MANE Select NP_065394.1:p.Ser244Ile
Search 100 bp 5'
Search 100 bp 3'