Canonical Allele Identifier: CA400168379

Gene: DLX4

Linked Data

• MyVariant Identifiers: chr17:g.48051171C>A (hg19) ; chr17:g.49973807C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973807C>A , CM000679.2:g.49973807C>A	GRCh38
NC_000017.10:g.48051171C>A , CM000679.1:g.48051171C>A	GRCh37
NC_000017.9:g.45406170C>A	NCBI36
NG_030592.1:g.9610C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1468C>A
ENST00000240306.5:c.587C>A MANE Select	ENSP00000240306.3:p.Pro196His
ENST00000240306.4:c.587C>A	ENSP00000240306.3:p.Pro196His
ENST00000411890.3:c.371C>A	ENSP00000410622.2:p.Pro124His
ENST00000611342.1:c.*457C>A	ENSP00000480366.1:n.*457C>A
NM_001934.3:c.371C>A	NP_001925.2:p.Pro124His
NM_138281.2:c.587C>A	NP_612138.1:p.Pro196His
XM_011524459.1:c.371C>A	XP_011522761.1:p.Pro124His
XM_017024291.1:c.371C>A	XP_016879780.1:p.Pro124His
NM_138281.3:c.587C>A MANE Select	NP_612138.1:p.Pro196His
NM_001934.4:c.371C>A	NP_001925.2:p.Pro124His