Canonical Allele Identifier: CA2587946749
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7524898-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7524898T>G , CM000681.2:g.7524898T>G GRCh38
NC_000019.9:g.7589784T>G , CM000681.1:g.7589784T>G GRCh37
NC_000019.8:g.7495784T>G NCBI36
NG_015806.1:g.7289T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.32-63T>G MANE Select ENSP00000264079.5:n.32-63T>G
ENST00000264079.10:c.32-63T>G ENSP00000264079.5:n.32-63T>G
ENST00000394321.9:n.112-63T>G
ENST00000596390.1:n.148-63T>G
ENST00000601003.1:c.32-63T>G ENSP00000469074.1:n.32-63T>G
NM_020533.2:c.32-63T>G NP_065394.1:n.32-63T>G
XR_936293.1:n.57A>C
XR_936294.1:n.57A>C
XR_936295.1:n.57A>C
XR_936293.2:n.83A>C
XR_936294.2:n.83A>C
NM_020533.3:c.32-63T>G MANE Select NP_065394.1:n.32-63T>G