Canonical Allele Identifier: CA2587948365
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7527654-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527654C>G , CM000681.2:g.7527654C>G GRCh38
NC_000019.9:g.7592540C>G , CM000681.1:g.7592540C>G GRCh37
NC_000019.8:g.7498540C>G NCBI36
NG_015806.1:g.10045C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.680+26C>G MANE Select ENSP00000264079.5:n.680+26C>G
ENST00000264079.10:c.680+26C>G ENSP00000264079.5:n.680+26C>G
ENST00000394321.9:n.786C>G
ENST00000598406.1:n.527C>G
ENST00000601003.1:c.572-210C>G ENSP00000469074.1:n.572-210C>G
NM_020533.2:c.680+26C>G NP_065394.1:n.680+26C>G
NM_020533.3:c.680+26C>G MANE Select NP_065394.1:n.680+26C>G
Search 100 bp 5'
Search 100 bp 3'