Canonical Allele Identifier: CA400168420

Gene: DLX4

Linked Data

• gnomAD v4: 17-49973812-T-A
• MyVariant Identifiers: chr17:g.48051176T>A (hg19) ; chr17:g.49973812T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973812T>A , CM000679.2:g.49973812T>A	GRCh38
NC_000017.10:g.48051176T>A , CM000679.1:g.48051176T>A	GRCh37
NC_000017.9:g.45406175T>A	NCBI36
NG_030592.1:g.9615T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1473T>A
ENST00000240306.5:c.592T>A MANE Select	ENSP00000240306.3:p.Ser198Thr
ENST00000240306.4:c.592T>A	ENSP00000240306.3:p.Ser198Thr
ENST00000411890.3:c.376T>A	ENSP00000410622.2:p.Ser126Thr
ENST00000611342.1:c.*462T>A	ENSP00000480366.1:n.*462T>A
NM_001934.3:c.376T>A	NP_001925.2:p.Ser126Thr
NM_138281.2:c.592T>A	NP_612138.1:p.Ser198Thr
XM_011524459.1:c.376T>A	XP_011522761.1:p.Ser126Thr
XM_017024291.1:c.376T>A	XP_016879780.1:p.Ser126Thr
NM_138281.3:c.592T>A MANE Select	NP_612138.1:p.Ser198Thr
NM_001934.4:c.376T>A	NP_001925.2:p.Ser126Thr