Canonical Allele Identifier: CA400168370

Gene: DLX4

Linked Data

• MyVariant Identifiers: chr17:g.48051168C>A (hg19) ; chr17:g.49973804C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973804C>A , CM000679.2:g.49973804C>A	GRCh38
NC_000017.10:g.48051168C>A , CM000679.1:g.48051168C>A	GRCh37
NC_000017.9:g.45406167C>A	NCBI36
NG_030592.1:g.9607C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1465C>A
ENST00000240306.5:c.584C>A MANE Select	ENSP00000240306.3:p.Ser195Tyr
ENST00000240306.4:c.584C>A	ENSP00000240306.3:p.Ser195Tyr
ENST00000411890.3:c.368C>A	ENSP00000410622.2:p.Ser123Tyr
ENST00000611342.1:c.*454C>A	ENSP00000480366.1:n.*454C>A
NM_001934.3:c.368C>A	NP_001925.2:p.Ser123Tyr
NM_138281.2:c.584C>A	NP_612138.1:p.Ser195Tyr
XM_011524459.1:c.368C>A	XP_011522761.1:p.Ser123Tyr
XM_017024291.1:c.368C>A	XP_016879780.1:p.Ser123Tyr
NM_138281.3:c.584C>A MANE Select	NP_612138.1:p.Ser195Tyr
NM_001934.4:c.368C>A	NP_001925.2:p.Ser123Tyr