Canonical Allele Identifier: CA304856689
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1030909046
gnomAD v2: 19-7598058-A-T
gnomAD v3: 19-7533172-A-T
gnomAD v4: 19-7533172-A-T
MyVariant Identifiers: chr19:g.7598058A>T (hg19) chr19:g.7533172A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533172A>T , CM000681.2:g.7533172A>T GRCh38
NC_000019.9:g.7598058A>T , CM000681.1:g.7598058A>T GRCh37
NC_000019.8:g.7504058A>T NCBI36
NG_013374.1:g.4021A>T
NG_015806.1:g.15563A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1576-351A>T MANE Select ENSP00000264079.5:n.1576-351A>T
ENST00000264079.10:c.1576-351A>T ENSP00000264079.5:n.1576-351A>T
ENST00000394321.9:n.1891-351A>T
ENST00000599334.1:c.304-351A>T
NM_020533.2:c.1576-351A>T NP_065394.1:n.1576-351A>T
NM_020533.3:c.1576-351A>T MANE Select NP_065394.1:n.1576-351A>T
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