Canonical Allele Identifier: CA2587950333
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7533488-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533488A>G , CM000681.2:g.7533488A>G GRCh38
NC_000019.9:g.7598374A>G , CM000681.1:g.7598374A>G GRCh37
NC_000019.8:g.7504374A>G NCBI36
NG_013374.1:g.4337A>G
NG_015806.1:g.15879A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.1576-35A>G MANE Select ENSP00000264079.5:n.1576-35A>G
ENST00000264079.10:c.1576-35A>G ENSP00000264079.5:n.1576-35A>G
ENST00000394321.9:n.1891-35A>G
ENST00000599334.1:c.304-35A>G
ENST00000602227.1:n.95A>G
NM_020533.2:c.1576-35A>G NP_065394.1:n.1576-35A>G
NM_020533.3:c.1576-35A>G MANE Select NP_065394.1:n.1576-35A>G
Search 100 bp 5'
Search 100 bp 3'