Canonical Allele Identifier: CA400168792

Gene: DLX4

Linked Data

• MyVariant Identifiers: chr17:g.48051267A>T (hg19) ; chr17:g.49973903A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973903A>T , CM000679.2:g.49973903A>T	GRCh38
NC_000017.10:g.48051267A>T , CM000679.1:g.48051267A>T	GRCh37
NC_000017.9:g.45406266A>T	NCBI36
NG_030592.1:g.9706A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1564A>T
ENST00000240306.5:c.683A>T MANE Select	ENSP00000240306.3:p.His228Leu
ENST00000240306.4:c.683A>T	ENSP00000240306.3:p.His228Leu
ENST00000411890.3:c.467A>T	ENSP00000410622.2:p.His156Leu
ENST00000611342.1:c.*553A>T	ENSP00000480366.1:n.*553A>T
NM_001934.3:c.467A>T	NP_001925.2:p.His156Leu
NM_138281.2:c.683A>T	NP_612138.1:p.His228Leu
XM_011524459.1:c.467A>T	XP_011522761.1:p.His156Leu
XM_017024291.1:c.467A>T	XP_016879780.1:p.His156Leu
NM_138281.3:c.683A>T MANE Select	NP_612138.1:p.His228Leu
NM_001934.4:c.467A>T	NP_001925.2:p.His156Leu