Canonical Allele Identifier: CA2739637922
Gene: MCOLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527791C>G , CM000681.2:g.7527791C>G GRCh38
NC_000019.9:g.7592677C>G , CM000681.1:g.7592677C>G GRCh37
NC_000019.8:g.7498677C>G NCBI36
NG_015806.1:g.10182C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.681-73C>G MANE Select ENSP00000264079.5:n.681-73C>G
ENST00000264079.10:c.681-73C>G ENSP00000264079.5:n.681-73C>G
ENST00000394321.9:n.923C>G
ENST00000601003.1:c.572-73C>G ENSP00000469074.1:n.572-73C>G
NM_020533.2:c.681-73C>G NP_065394.1:n.681-73C>G
NM_020533.3:c.681-73C>G MANE Select NP_065394.1:n.681-73C>G
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