Canonical Allele Identifier: CA403085741
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528846A>C , CM000681.2:g.7528846A>C GRCh38
NC_000019.9:g.7593732A>C , CM000681.1:g.7593732A>C GRCh37
NC_000019.8:g.7499732A>C NCBI36
NG_015806.1:g.11237A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1010A>C MANE Select ENSP00000264079.5:p.Gln337Pro
ENST00000264079.10:c.1010A>C ENSP00000264079.5:p.Gln337Pro
ENST00000394321.9:n.1325A>C
ENST00000595860.5:n.193A>C
NM_020533.2:c.1010A>C NP_065394.1:p.Gln337Pro
NM_020533.3:c.1010A>C MANE Select NP_065394.1:p.Gln337Pro