Canonical Allele Identifier: CA2576596905
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526351C>G , CM000681.2:g.7526351C>G GRCh38
NC_000019.9:g.7591237C>G , CM000681.1:g.7591237C>G GRCh37
NC_000019.8:g.7497237C>G NCBI36
NG_015806.1:g.8742C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.238-88C>G MANE Select ENSP00000264079.5:n.238-88C>G
ENST00000264079.10:c.238-88C>G ENSP00000264079.5:n.238-88C>G
ENST00000394321.9:n.318-88C>G
ENST00000596008.1:n.112C>G
ENST00000601003.1:c.238-88C>G ENSP00000469074.1:n.238-88C>G
NM_020533.2:c.238-88C>G NP_065394.1:n.238-88C>G
NM_020533.3:c.238-88C>G MANE Select NP_065394.1:n.238-88C>G
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