Canonical Allele Identifier: CA2320962497
Gene: MCOLN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527766T= , CM000681.2:g.7527766T= GRCh38
NC_000019.9:g.7592652T= , CM000681.1:g.7592652T= GRCh37
NC_000019.8:g.7498652T= NCBI36
NG_015806.1:g.10157T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.681-98T= MANE Select ENSP00000264079.5:n.681-98T=
ENST00000264079.10:c.681-98T= ENSP00000264079.5:n.681-98T=
ENST00000394321.9:n.898T=
ENST00000598406.1:n.639T=
ENST00000601003.1:c.572-98T= ENSP00000469074.1:n.572-98T=
NM_020533.2:c.681-98T= NP_065394.1:n.681-98T=
NM_020533.3:c.681-98T= MANE Select NP_065394.1:n.681-98T=