Canonical Allele Identifier: CA400168937

Gene: DLX4

Linked Data

• dbSNP Id: rs1380104971
• gnomAD v2: 17-48051305-T-A
• gnomAD v4: 17-49973941-T-A
• MyVariant Identifiers: chr17:g.48051305T>A (hg19) ; chr17:g.49973941T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973941T>A , CM000679.2:g.49973941T>A	GRCh38
NC_000017.10:g.48051305T>A , CM000679.1:g.48051305T>A	GRCh37
NC_000017.9:g.45406304T>A	NCBI36
NG_030592.1:g.9744T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1602T>A
ENST00000240306.5:c.721T>A MANE Select	ENSP00000240306.3:p.Ter241Arg
ENST00000240306.4:c.721T>A	ENSP00000240306.3:p.Ter241Arg
ENST00000411890.3:c.505T>A	ENSP00000410622.2:p.Ter169Arg
ENST00000611342.1:c.*591T>A	ENSP00000480366.1:n.*591T>A
NM_001934.3:c.505T>A	NP_001925.2:p.Ter169Arg
NM_138281.2:c.721T>A	NP_612138.1:p.Ter241Arg
XM_011524459.1:c.505T>A	XP_011522761.1:p.Ter169Arg
XM_017024291.1:c.505T>A	XP_016879780.1:p.Ter169Arg
NM_138281.3:c.721T>A MANE Select	NP_612138.1:p.Ter241Arg
NM_001934.4:c.505T>A	NP_001925.2:p.Ter169Arg