Canonical Allele Identifier: CA403083829
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1452916369
gnomAD v3: 19-7527883-C-T
gnomAD v4: 19-7527883-C-T
MyVariant Identifiers: chr19:g.7592769C>T (hg19) chr19:g.7527883C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527883C>T , CM000681.2:g.7527883C>T GRCh38
NC_000019.9:g.7592769C>T , CM000681.1:g.7592769C>T GRCh37
NC_000019.8:g.7498769C>T NCBI36
NG_015806.1:g.10274C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.700C>T MANE Select ENSP00000264079.5:p.His234Tyr
ENST00000264079.10:c.700C>T ENSP00000264079.5:p.His234Tyr
ENST00000394321.9:n.1015C>T
ENST00000601003.1:c.591C>T ENSP00000469074.1:p.Ser197=
NM_020533.2:c.700C>T NP_065394.1:p.His234Tyr
NM_020533.3:c.700C>T MANE Select NP_065394.1:p.His234Tyr
Search 100 bp 5'
Search 100 bp 3'