Canonical Allele Identifier: CA403082157
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527568A>G , CM000681.2:g.7527568A>G GRCh38
NC_000019.9:g.7592454A>G , CM000681.1:g.7592454A>G GRCh37
NC_000019.8:g.7498454A>G NCBI36
NG_015806.1:g.9959A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.620A>G MANE Select ENSP00000264079.5:p.Asp207Gly
ENST00000264079.10:c.620A>G ENSP00000264079.5:p.Asp207Gly
ENST00000394321.9:n.700A>G
ENST00000598406.1:n.441A>G
ENST00000601003.1:c.572-296A>G ENSP00000469074.1:n.572-296A>G
NM_020533.2:c.620A>G NP_065394.1:p.Asp207Gly
NM_020533.3:c.620A>G MANE Select NP_065394.1:p.Asp207Gly