Canonical Allele Identifier: CA400168530

Gene: DLX4

Linked Data

• gnomAD v3: 17-49973840-T-A
• gnomAD v4: 17-49973840-T-A
• MyVariant Identifiers: chr17:g.48051204T>A (hg19) ; chr17:g.49973840T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973840T>A , CM000679.2:g.49973840T>A	GRCh38
NC_000017.10:g.48051204T>A , CM000679.1:g.48051204T>A	GRCh37
NC_000017.9:g.45406203T>A	NCBI36
NG_030592.1:g.9643T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1501T>A
ENST00000240306.5:c.620T>A MANE Select	ENSP00000240306.3:p.Leu207Gln
ENST00000240306.4:c.620T>A	ENSP00000240306.3:p.Leu207Gln
ENST00000411890.3:c.404T>A	ENSP00000410622.2:p.Leu135Gln
ENST00000611342.1:c.*490T>A	ENSP00000480366.1:n.*490T>A
NM_001934.3:c.404T>A	NP_001925.2:p.Leu135Gln
NM_138281.2:c.620T>A	NP_612138.1:p.Leu207Gln
XM_011524459.1:c.404T>A	XP_011522761.1:p.Leu135Gln
XM_017024291.1:c.404T>A	XP_016879780.1:p.Leu135Gln
NM_138281.3:c.620T>A MANE Select	NP_612138.1:p.Leu207Gln
NM_001934.4:c.404T>A	NP_001925.2:p.Leu135Gln