Canonical Allele Identifier: CA400168946

Gene: DLX4

Linked Data

• MyVariant Identifiers: chr17:g.48051306G>T (hg19) ; chr17:g.49973942G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973942G>T , CM000679.2:g.49973942G>T	GRCh38
NC_000017.10:g.48051306G>T , CM000679.1:g.48051306G>T	GRCh37
NC_000017.9:g.45406305G>T	NCBI36
NG_030592.1:g.9745G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1603G>T
ENST00000240306.5:c.722G>T MANE Select	ENSP00000240306.3:p.Ter241Leu
ENST00000240306.4:c.722G>T	ENSP00000240306.3:p.Ter241Leu
ENST00000411890.3:c.506G>T	ENSP00000410622.2:p.Ter169Leu
ENST00000611342.1:c.*592G>T	ENSP00000480366.1:n.*592G>T
NM_001934.3:c.506G>T	NP_001925.2:p.Ter169Leu
NM_138281.2:c.722G>T	NP_612138.1:p.Ter241Leu
XM_011524459.1:c.506G>T	XP_011522761.1:p.Ter169Leu
XM_017024291.1:c.506G>T	XP_016879780.1:p.Ter169Leu
NM_138281.3:c.722G>T MANE Select	NP_612138.1:p.Ter241Leu
NM_001934.4:c.506G>T	NP_001925.2:p.Ter169Leu