Canonical Allele Identifier: CA400168837

Gene: DLX4

Linked Data

• dbSNP Id: rs1441150121
• gnomAD v2: 17-48051278-G-A
• gnomAD v3: 17-49973914-G-A
• gnomAD v4: 17-49973914-G-A
• MyVariant Identifiers: chr17:g.48051278G>A (hg19) ; chr17:g.49973914G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973914G>A , CM000679.2:g.49973914G>A	GRCh38
NC_000017.10:g.48051278G>A , CM000679.1:g.48051278G>A	GRCh37
NC_000017.9:g.45406277G>A	NCBI36
NG_030592.1:g.9717G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1575G>A
ENST00000240306.5:c.694G>A MANE Select	ENSP00000240306.3:p.Asp232Asn
ENST00000240306.4:c.694G>A	ENSP00000240306.3:p.Asp232Asn
ENST00000411890.3:c.478G>A	ENSP00000410622.2:p.Asp160Asn
ENST00000611342.1:c.*564G>A	ENSP00000480366.1:n.*564G>A
NM_001934.3:c.478G>A	NP_001925.2:p.Asp160Asn
NM_138281.2:c.694G>A	NP_612138.1:p.Asp232Asn
XM_011524459.1:c.478G>A	XP_011522761.1:p.Asp160Asn
XM_017024291.1:c.478G>A	XP_016879780.1:p.Asp160Asn
NM_138281.3:c.694G>A MANE Select	NP_612138.1:p.Asp232Asn
NM_001934.4:c.478G>A	NP_001925.2:p.Asp160Asn