Canonical Allele Identifier: CA8641107
Gene: DLX3 HGNC NCBI
COSMIC:
COSM6352945 (not active)
MyVariant.info:
GRCh38 chr17:g.49994861G>A
GRCh37 chr17:g.48072225G>A
gnomAD v2:
17:48072225 G / A
gnomAD v3:
17:49994861 G / A
gnomAD v4:
chr17-49994861-G-A
Joint Max Group AF 0.19181235 (EAS)
Genomes Max Group AF 0.18359081 (SAS)
Exomes Max Group AF 0.19367681 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.49994861G>A , CM000679.2:g.49994861G>A GRCh38
NC_000017.10:g.48072225G>A , CM000679.1:g.48072225G>A GRCh37
NC_000017.9:g.45427224G>A NCBI36
NG_023063.1:g.5364C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000434704.2:c.138C>T MANE Select ENSP00000389870.2:p.Pro46=
NM_005220.2:c.138C>T NP_005211.1:p.Pro46=
XM_011524458.1:c.138C>T XP_011522760.1:p.Pro46=
NM_005220.3:c.138C>T MANE Select NP_005211.1:p.Pro46=
Search 100 bp 5'
Search 100 bp 3'