Canonical Allele Identifier: CA403088090
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7529695-G-C
MyVariant Identifiers: chr19:g.7594581G>C (hg19) chr19:g.7529695G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529695G>C , CM000681.2:g.7529695G>C GRCh38
NC_000019.9:g.7594581G>C , CM000681.1:g.7594581G>C GRCh37
NC_000019.8:g.7500581G>C NCBI36
NG_013374.1:g.544G>C
NG_015806.1:g.12086G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1342G>C MANE Select ENSP00000264079.5:p.Gly448Arg
ENST00000264079.10:c.1342G>C ENSP00000264079.5:p.Gly448Arg
ENST00000394321.9:n.1657G>C
ENST00000594692.1:n.338G>C
ENST00000595860.5:n.525G>C
ENST00000599334.1:c.219G>C
NM_020533.2:c.1342G>C NP_065394.1:p.Gly448Arg
NM_020533.3:c.1342G>C MANE Select NP_065394.1:p.Gly448Arg
Search 100 bp 5'
Search 100 bp 3'