Canonical Allele Identifier: CA403085744
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.1010A>T MANE Select ENSP00000264079.5:p.Gln337Leu
ENST00000264079.10:c.1010A>T ENSP00000264079.5:p.Gln337Leu
ENST00000394321.9:n.1325A>T
ENST00000595860.5:n.193A>T
NM_020533.2:c.1010A>T NP_065394.1:p.Gln337Leu
NM_020533.3:c.1010A>T MANE Select NP_065394.1:p.Gln337Leu