Canonical Allele Identifier: CA400168599

Gene: DLX4

Linked Data

• dbSNP Id: rs2144164859
• gnomAD v3: 17-49973858-T-A
• gnomAD v4: 17-49973858-T-A
• MyVariant Identifiers: chr17:g.48051222T>A (hg19) ; chr17:g.49973858T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973858T>A , CM000679.2:g.49973858T>A	GRCh38
NC_000017.10:g.48051222T>A , CM000679.1:g.48051222T>A	GRCh37
NC_000017.9:g.45406221T>A	NCBI36
NG_030592.1:g.9661T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1519T>A
ENST00000240306.5:c.638T>A MANE Select	ENSP00000240306.3:p.Leu213Gln
ENST00000240306.4:c.638T>A	ENSP00000240306.3:p.Leu213Gln
ENST00000411890.3:c.422T>A	ENSP00000410622.2:p.Leu141Gln
ENST00000611342.1:c.*508T>A	ENSP00000480366.1:n.*508T>A
NM_001934.3:c.422T>A	NP_001925.2:p.Leu141Gln
NM_138281.2:c.638T>A	NP_612138.1:p.Leu213Gln
XM_011524459.1:c.422T>A	XP_011522761.1:p.Leu141Gln
XM_017024291.1:c.422T>A	XP_016879780.1:p.Leu141Gln
NM_138281.3:c.638T>A MANE Select	NP_612138.1:p.Leu213Gln
NM_001934.4:c.422T>A	NP_001925.2:p.Leu141Gln