Canonical Allele Identifier: CA400168406

Gene: DLX4

Linked Data

• gnomAD v4: 17-49973810-G-A
• MyVariant Identifiers: chr17:g.48051174G>A (hg19) ; chr17:g.49973810G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973810G>A , CM000679.2:g.49973810G>A	GRCh38
NC_000017.10:g.48051174G>A , CM000679.1:g.48051174G>A	GRCh37
NC_000017.9:g.45406173G>A	NCBI36
NG_030592.1:g.9613G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1471G>A
ENST00000240306.5:c.590G>A MANE Select	ENSP00000240306.3:p.Cys197Tyr
ENST00000240306.4:c.590G>A	ENSP00000240306.3:p.Cys197Tyr
ENST00000411890.3:c.374G>A	ENSP00000410622.2:p.Cys125Tyr
ENST00000611342.1:c.*460G>A	ENSP00000480366.1:n.*460G>A
NM_001934.3:c.374G>A	NP_001925.2:p.Cys125Tyr
NM_138281.2:c.590G>A	NP_612138.1:p.Cys197Tyr
XM_011524459.1:c.374G>A	XP_011522761.1:p.Cys125Tyr
XM_017024291.1:c.374G>A	XP_016879780.1:p.Cys125Tyr
NM_138281.3:c.590G>A MANE Select	NP_612138.1:p.Cys197Tyr
NM_001934.4:c.374G>A	NP_001925.2:p.Cys125Tyr