Canonical Allele Identifier: CA403082473
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527620A>C , CM000681.2:g.7527620A>C GRCh38
NC_000019.9:g.7592506A>C , CM000681.1:g.7592506A>C GRCh37
NC_000019.8:g.7498506A>C NCBI36
NG_015806.1:g.10011A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.672A>C MANE Select ENSP00000264079.5:p.Lys224Asn
ENST00000264079.10:c.672A>C ENSP00000264079.5:p.Lys224Asn
ENST00000394321.9:n.752A>C
ENST00000598406.1:n.493A>C
ENST00000601003.1:c.572-244A>C ENSP00000469074.1:n.572-244A>C
NM_020533.2:c.672A>C NP_065394.1:p.Lys224Asn
NM_020533.3:c.672A>C MANE Select NP_065394.1:p.Lys224Asn