Canonical Allele Identifier: CA884205639
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1383408704
gnomAD v3: 19-7533492-T-C
gnomAD v4: 19-7533492-T-C
MyVariant Identifiers: chr19:g.7598378T>C (hg19) chr19:g.7533492T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533492T>C , CM000681.2:g.7533492T>C GRCh38
NC_000019.9:g.7598378T>C , CM000681.1:g.7598378T>C GRCh37
NC_000019.8:g.7504378T>C NCBI36
NG_013374.1:g.4341T>C
NG_015806.1:g.15883T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1576-31T>C MANE Select ENSP00000264079.5:n.1576-31T>C
ENST00000264079.10:c.1576-31T>C ENSP00000264079.5:n.1576-31T>C
ENST00000394321.9:n.1891-31T>C
ENST00000599334.1:c.304-31T>C
ENST00000602227.1:n.99T>C
NM_020533.2:c.1576-31T>C NP_065394.1:n.1576-31T>C
NM_020533.3:c.1576-31T>C MANE Select NP_065394.1:n.1576-31T>C
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