Canonical Allele Identifier: CA403084427
Gene: MCOLN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528161A>T , CM000681.2:g.7528161A>T GRCh38
NC_000019.9:g.7593047A>T , CM000681.1:g.7593047A>T GRCh37
NC_000019.8:g.7499047A>T NCBI36
NG_015806.1:g.10552A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.781A>T MANE Select ENSP00000264079.5:p.Thr261Ser
ENST00000264079.10:c.781A>T ENSP00000264079.5:p.Thr261Ser
ENST00000394321.9:n.1096A>T
NM_020533.2:c.781A>T NP_065394.1:p.Thr261Ser
NM_020533.3:c.781A>T MANE Select NP_065394.1:p.Thr261Ser