Canonical Allele Identifier: CA2320961054

Gene: MCOLN1

Linked Data

• dbSNP Id: rs1599252085
• gnomAD v4: 19-7524831-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7524831C>T , CM000681.2:g.7524831C>T	GRCh38
NC_000019.9:g.7589717C>T , CM000681.1:g.7589717C>T	GRCh37
NC_000019.8:g.7495717C>T	NCBI36
NG_015806.1:g.7222C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.32-130C>T MANE Select	ENSP00000264079.5:n.32-130C>T
ENST00000264079.10:c.32-130C>T	ENSP00000264079.5:n.32-130C>T
ENST00000394321.9:n.112-130C>T
ENST00000596390.1:n.148-130C>T
ENST00000601003.1:c.32-130C>T	ENSP00000469074.1:n.32-130C>T
NM_020533.2:c.32-130C>T	NP_065394.1:n.32-130C>T
XR_936293.1:n.124G>A
XR_936294.1:n.124G>A
XR_936295.1:n.124G>A
XR_936293.2:n.150G>A
XR_936294.2:n.150G>A
NM_020533.3:c.32-130C>T MANE Select	NP_065394.1:n.32-130C>T