Canonical Allele Identifier: CA403091788
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7533635-T-G
MyVariant Identifiers: chr19:g.7598521T>G (hg19) chr19:g.7533635T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533635T>G , CM000681.2:g.7533635T>G GRCh38
NC_000019.9:g.7598521T>G , CM000681.1:g.7598521T>G GRCh37
NC_000019.8:g.7504521T>G NCBI36
NG_013374.1:g.4484T>G
NG_015806.1:g.16026T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1688T>G MANE Select ENSP00000264079.5:p.Leu563Arg
ENST00000264079.10:c.1688T>G ENSP00000264079.5:p.Leu563Arg
ENST00000394321.9:n.2003T>G
ENST00000599334.1:c.416T>G
ENST00000601870.1:c.41T>G
ENST00000602227.1:n.242T>G
NM_020533.2:c.1688T>G NP_065394.1:p.Leu563Arg
NM_020533.3:c.1688T>G MANE Select NP_065394.1:p.Leu563Arg
Search 100 bp 5'
Search 100 bp 3'