Canonical Allele Identifier: CA400168357

Gene: DLX4

Linked Data

• MyVariant Identifiers: chr17:g.48051165T>A (hg19) ; chr17:g.49973801T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973801T>A , CM000679.2:g.49973801T>A	GRCh38
NC_000017.10:g.48051165T>A , CM000679.1:g.48051165T>A	GRCh37
NC_000017.9:g.45406164T>A	NCBI36
NG_030592.1:g.9604T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1462T>A
ENST00000240306.5:c.581T>A MANE Select	ENSP00000240306.3:p.Val194Glu
ENST00000240306.4:c.581T>A	ENSP00000240306.3:p.Val194Glu
ENST00000411890.3:c.365T>A	ENSP00000410622.2:p.Val122Glu
ENST00000611342.1:c.*451T>A	ENSP00000480366.1:n.*451T>A
NM_001934.3:c.365T>A	NP_001925.2:p.Val122Glu
NM_138281.2:c.581T>A	NP_612138.1:p.Val194Glu
XM_011524459.1:c.365T>A	XP_011522761.1:p.Val122Glu
XM_017024291.1:c.365T>A	XP_016879780.1:p.Val122Glu
NM_138281.3:c.581T>A MANE Select	NP_612138.1:p.Val194Glu
NM_001934.4:c.365T>A	NP_001925.2:p.Val122Glu