Canonical Allele Identifier: CA400168608

Gene: DLX4

Linked Data

• MyVariant Identifiers: chr17:g.48051225C>A (hg19) ; chr17:g.49973861C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973861C>A , CM000679.2:g.49973861C>A	GRCh38
NC_000017.10:g.48051225C>A , CM000679.1:g.48051225C>A	GRCh37
NC_000017.9:g.45406224C>A	NCBI36
NG_030592.1:g.9664C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1522C>A
ENST00000240306.5:c.641C>A MANE Select	ENSP00000240306.3:p.Pro214His
ENST00000240306.4:c.641C>A	ENSP00000240306.3:p.Pro214His
ENST00000411890.3:c.425C>A	ENSP00000410622.2:p.Pro142His
ENST00000611342.1:c.*511C>A	ENSP00000480366.1:n.*511C>A
NM_001934.3:c.425C>A	NP_001925.2:p.Pro142His
NM_138281.2:c.641C>A	NP_612138.1:p.Pro214His
XM_011524459.1:c.425C>A	XP_011522761.1:p.Pro142His
XM_017024291.1:c.425C>A	XP_016879780.1:p.Pro142His
NM_138281.3:c.641C>A MANE Select	NP_612138.1:p.Pro214His
NM_001934.4:c.425C>A	NP_001925.2:p.Pro142His