Canonical Allele Identifier: CA8640889

Gene: DLX4

Linked Data

• dbSNP Id: rs772397428
• ExAC: 17:48051213 C / A
• gnomAD v2: 17-48051213-C-A
• gnomAD v3: 17-49973849-C-A
• gnomAD v4: 17-49973849-C-A
• MyVariant Identifiers: chr17:g.48051213C>A (hg19) ; chr17:g.49973849C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973849C>A , CM000679.2:g.49973849C>A	GRCh38
NC_000017.10:g.48051213C>A , CM000679.1:g.48051213C>A	GRCh37
NC_000017.9:g.45406212C>A	NCBI36
NG_030592.1:g.9652C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1510C>A
ENST00000240306.5:c.629C>A MANE Select	ENSP00000240306.3:p.Ala210Glu
ENST00000240306.4:c.629C>A	ENSP00000240306.3:p.Ala210Glu
ENST00000411890.3:c.413C>A	ENSP00000410622.2:p.Ala138Glu
ENST00000611342.1:c.*499C>A	ENSP00000480366.1:n.*499C>A
NM_001934.3:c.413C>A	NP_001925.2:p.Ala138Glu
NM_138281.2:c.629C>A	NP_612138.1:p.Ala210Glu
XM_011524459.1:c.413C>A	XP_011522761.1:p.Ala138Glu
XM_017024291.1:c.413C>A	XP_016879780.1:p.Ala138Glu
NM_138281.3:c.629C>A MANE Select	NP_612138.1:p.Ala210Glu
NM_001934.4:c.413C>A	NP_001925.2:p.Ala138Glu