Canonical Allele Identifier: CA400168516

Gene: DLX4

Linked Data

• dbSNP Id: rs2144164770
• gnomAD v4: 17-49973837-A-C
• MyVariant Identifiers: chr17:g.48051201A>C (hg19) ; chr17:g.49973837A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973837A>C , CM000679.2:g.49973837A>C	GRCh38
NC_000017.10:g.48051201A>C , CM000679.1:g.48051201A>C	GRCh37
NC_000017.9:g.45406200A>C	NCBI36
NG_030592.1:g.9640A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1498A>C
ENST00000240306.5:c.617A>C MANE Select	ENSP00000240306.3:p.Asp206Ala
ENST00000240306.4:c.617A>C	ENSP00000240306.3:p.Asp206Ala
ENST00000411890.3:c.401A>C	ENSP00000410622.2:p.Asp134Ala
ENST00000611342.1:c.*487A>C	ENSP00000480366.1:n.*487A>C
NM_001934.3:c.401A>C	NP_001925.2:p.Asp134Ala
NM_138281.2:c.617A>C	NP_612138.1:p.Asp206Ala
XM_011524459.1:c.401A>C	XP_011522761.1:p.Asp134Ala
XM_017024291.1:c.401A>C	XP_016879780.1:p.Asp134Ala
NM_138281.3:c.617A>C MANE Select	NP_612138.1:p.Asp206Ala
NM_001934.4:c.401A>C	NP_001925.2:p.Asp134Ala