Canonical Allele Identifier: CA128834

Gene: DLX5

Linked Data

• ClinVar Variation Id: 30021
• ClinVar RCV Id: RCV000022921
• dbSNP Id: rs387906737
• MyVariant Identifiers: chr7:g.96651504T>G (hg19) ; chr7:g.97022192T>G (hg38)
• PubMed: PMID:22121204

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.97022192T>G , CM000669.2:g.97022192T>G	GRCh38
NC_000007.13:g.96651504T>G , CM000669.1:g.96651504T>G	GRCh37
NC_000007.12:g.96489440T>G	NCBI36
NG_009220.1:g.7640A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648378.1:c.533A>C MANE Select	ENSP00000498116.1:p.Gln178Pro
ENST00000222598.4:c.533A>C	ENSP00000222598.4:p.Gln178Pro
ENST00000486603.2:c.533A>C	ENSP00000475008.1:p.Gln178Pro
ENST00000493764.1:n.655A>C
NM_005221.5:c.533A>C	NP_005212.1:p.Gln178Pro
XM_005250185.2:c.149A>C	XP_005250242.1:p.Gln50Pro
XM_011515860.1:c.*4A>C	XP_011514162.1:n.*4A>C
XR_927389.1:n.741A>C
NM_005221.6:c.533A>C MANE Select	NP_005212.1:p.Gln178Pro
XM_005250185.3:c.149A>C	XP_005250242.1:p.Gln50Pro
XM_017011803.1:c.149A>C	XP_016867292.1:p.Gln50Pro