Canonical Allele Identifier: CA2320962336
Gene: MCOLN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527503T= , CM000681.2:g.7527503T= GRCh38
NC_000019.9:g.7592389T= , CM000681.1:g.7592389T= GRCh37
NC_000019.8:g.7498389T= NCBI36
NG_015806.1:g.9894T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.572-17T= MANE Select ENSP00000264079.5:n.572-17T=
ENST00000264079.10:c.572-17T= ENSP00000264079.5:n.572-17T=
ENST00000394321.9:n.652-17T=
ENST00000598406.1:n.393-17T=
ENST00000601003.1:c.572-361T= ENSP00000469074.1:n.572-361T=
NM_020533.2:c.572-17T= NP_065394.1:n.572-17T=
NM_020533.3:c.572-17T= MANE Select NP_065394.1:n.572-17T=