Canonical Allele Identifier: CA400168460

Gene: DLX4

Linked Data

• gnomAD v4: 17-49973822-T-G
• MyVariant Identifiers: chr17:g.48051186T>G (hg19) ; chr17:g.49973822T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973822T>G , CM000679.2:g.49973822T>G	GRCh38
NC_000017.10:g.48051186T>G , CM000679.1:g.48051186T>G	GRCh37
NC_000017.9:g.45406185T>G	NCBI36
NG_030592.1:g.9625T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1483T>G
ENST00000240306.5:c.602T>G MANE Select	ENSP00000240306.3:p.Leu201Arg
ENST00000240306.4:c.602T>G	ENSP00000240306.3:p.Leu201Arg
ENST00000411890.3:c.386T>G	ENSP00000410622.2:p.Leu129Arg
ENST00000611342.1:c.*472T>G	ENSP00000480366.1:n.*472T>G
NM_001934.3:c.386T>G	NP_001925.2:p.Leu129Arg
NM_138281.2:c.602T>G	NP_612138.1:p.Leu201Arg
XM_011524459.1:c.386T>G	XP_011522761.1:p.Leu129Arg
XM_017024291.1:c.386T>G	XP_016879780.1:p.Leu129Arg
NM_138281.3:c.602T>G MANE Select	NP_612138.1:p.Leu201Arg
NM_001934.4:c.386T>G	NP_001925.2:p.Leu129Arg