Canonical Allele Identifier: CA400168563

Gene: DLX4

Linked Data

• MyVariant Identifiers: chr17:g.48051212G>C (hg19) ; chr17:g.49973848G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973848G>C , CM000679.2:g.49973848G>C	GRCh38
NC_000017.10:g.48051212G>C , CM000679.1:g.48051212G>C	GRCh37
NC_000017.9:g.45406211G>C	NCBI36
NG_030592.1:g.9651G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1509G>C
ENST00000240306.5:c.628G>C MANE Select	ENSP00000240306.3:p.Ala210Pro
ENST00000240306.4:c.628G>C	ENSP00000240306.3:p.Ala210Pro
ENST00000411890.3:c.412G>C	ENSP00000410622.2:p.Ala138Pro
ENST00000611342.1:c.*498G>C	ENSP00000480366.1:n.*498G>C
NM_001934.3:c.412G>C	NP_001925.2:p.Ala138Pro
NM_138281.2:c.628G>C	NP_612138.1:p.Ala210Pro
XM_011524459.1:c.412G>C	XP_011522761.1:p.Ala138Pro
XM_017024291.1:c.412G>C	XP_016879780.1:p.Ala138Pro
NM_138281.3:c.628G>C MANE Select	NP_612138.1:p.Ala210Pro
NM_001934.4:c.412G>C	NP_001925.2:p.Ala138Pro