Canonical Allele Identifier: CA2320962072
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1599253709
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527000C>G , CM000681.2:g.7527000C>G GRCh38
NC_000019.9:g.7591886C>G , CM000681.1:g.7591886C>G GRCh37
NC_000019.8:g.7497886C>G NCBI36
NG_015806.1:g.9391C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.571+74C>G MANE Select ENSP00000264079.5:n.571+74C>G
ENST00000264079.10:c.571+74C>G ENSP00000264079.5:n.571+74C>G
ENST00000394321.9:n.651+74C>G
ENST00000596008.1:n.607C>G
ENST00000598406.1:n.392+74C>G
ENST00000601003.1:c.571+74C>G ENSP00000469074.1:n.571+74C>G
NM_020533.2:c.571+74C>G NP_065394.1:n.571+74C>G
NM_020533.3:c.571+74C>G MANE Select NP_065394.1:n.571+74C>G
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