Canonical Allele Identifier: CA304856791
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs540897261
gnomAD v3: 19-7533238-A-C
gnomAD v4: 19-7533238-A-C
MyVariant Identifiers: chr19:g.7598124A>C (hg19) chr19:g.7533238A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533238A>C , CM000681.2:g.7533238A>C GRCh38
NC_000019.9:g.7598124A>C , CM000681.1:g.7598124A>C GRCh37
NC_000019.8:g.7504124A>C NCBI36
NG_013374.1:g.4087A>C
NG_015806.1:g.15629A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1576-285A>C MANE Select ENSP00000264079.5:n.1576-285A>C
ENST00000264079.10:c.1576-285A>C ENSP00000264079.5:n.1576-285A>C
ENST00000394321.9:n.1891-285A>C
ENST00000599334.1:c.304-285A>C
NM_020533.2:c.1576-285A>C NP_065394.1:n.1576-285A>C
NM_020533.3:c.1576-285A>C MANE Select NP_065394.1:n.1576-285A>C
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