Canonical Allele Identifier: CA403152370
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7524984A>G , CM000681.2:g.7524984A>G GRCh38
NC_000019.9:g.7589870A>G , CM000681.1:g.7589870A>G GRCh37
NC_000019.8:g.7495870A>G NCBI36
NG_015806.1:g.7375A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264079.11:c.55A>G MANE Select ENSP00000264079.5:p.Asn19Asp
ENST00000264079.10:c.55A>G ENSP00000264079.5:p.Asn19Asp
ENST00000394321.9:n.135A>G
ENST00000596390.1:n.171A>G
ENST00000601003.1:c.55A>G ENSP00000469074.1:p.Asn19Asp
NM_020533.2:c.55A>G NP_065394.1:p.Asn19Asp
NM_020533.3:c.55A>G MANE Select NP_065394.1:p.Asn19Asp