Canonical Allele Identifier: CA9138585
Gene: MCOLN1 HGNC NCBI

Linked Data

dbSNP Id: rs775040894
gnomAD v2: 19-7589855-C-T
gnomAD v3: 19-7524969-C-T
gnomAD v4: 19-7524969-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7524969C>T , CM000681.2:g.7524969C>T GRCh38
NC_000019.9:g.7589855C>T , CM000681.1:g.7589855C>T GRCh37
NC_000019.8:g.7495855C>T NCBI36
NG_015806.1:g.7360C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.40C>T MANE Select ENSP00000264079.5:p.Arg14Trp
ENST00000264079.10:c.40C>T ENSP00000264079.5:p.Arg14Trp
ENST00000394321.9:n.120C>T
ENST00000596390.1:n.156C>T
ENST00000601003.1:c.40C>T ENSP00000469074.1:p.Arg14Trp
NM_020533.2:c.40C>T NP_065394.1:p.Arg14Trp
XR_936293.2:n.12G>A
XR_936294.2:n.12G>A
NM_020533.3:c.40C>T MANE Select NP_065394.1:p.Arg14Trp