Canonical Allele Identifier: CA2576597028
Gene: MCOLN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528048A>G , CM000681.2:g.7528048A>G GRCh38
NC_000019.9:g.7592934A>G , CM000681.1:g.7592934A>G GRCh37
NC_000019.8:g.7498934A>G NCBI36
NG_015806.1:g.10439A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.777+88A>G MANE Select ENSP00000264079.5:n.777+88A>G
ENST00000264079.10:c.777+88A>G ENSP00000264079.5:n.777+88A>G
ENST00000394321.9:n.1092+88A>G
NM_020533.2:c.777+88A>G NP_065394.1:n.777+88A>G
NM_020533.3:c.777+88A>G MANE Select NP_065394.1:n.777+88A>G