Canonical Allele Identifier: CA403087461
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2527953
ClinVar RCV Id: RCV003290393
gnomAD v4: 19-7529623-A-G
MyVariant Identifiers: chr19:g.7594509A>G (hg19) chr19:g.7529623A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529623A>G , CM000681.2:g.7529623A>G GRCh38
NC_000019.9:g.7594509A>G , CM000681.1:g.7594509A>G GRCh37
NC_000019.8:g.7500509A>G NCBI36
NG_013374.1:g.472A>G
NG_015806.1:g.12014A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1270A>G MANE Select ENSP00000264079.5:p.Ser424Gly
ENST00000264079.10:c.1270A>G ENSP00000264079.5:p.Ser424Gly
ENST00000394321.9:n.1585A>G
ENST00000594692.1:n.266A>G
ENST00000595860.5:n.453A>G
ENST00000599334.1:c.147A>G
NM_020533.2:c.1270A>G NP_065394.1:p.Ser424Gly
NM_020533.3:c.1270A>G MANE Select NP_065394.1:p.Ser424Gly
Search 100 bp 5'
Search 100 bp 3'