Canonical Allele Identifier: CA291490698

Gene: DLX4

Linked Data

• dbSNP Id: rs549706388
• gnomAD v3: 17-49973897-A-G
• gnomAD v4: 17-49973897-A-G
• MyVariant Identifiers: chr17:g.48051261A>G (hg19) ; chr17:g.49973897A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973897A>G , CM000679.2:g.49973897A>G	GRCh38
NC_000017.10:g.48051261A>G , CM000679.1:g.48051261A>G	GRCh37
NC_000017.9:g.45406260A>G	NCBI36
NG_030592.1:g.9700A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1558A>G
ENST00000240306.5:c.677A>G MANE Select	ENSP00000240306.3:p.Tyr226Cys
ENST00000240306.4:c.677A>G	ENSP00000240306.3:p.Tyr226Cys
ENST00000411890.3:c.461A>G	ENSP00000410622.2:p.Tyr154Cys
ENST00000611342.1:c.*547A>G	ENSP00000480366.1:n.*547A>G
NM_001934.3:c.461A>G	NP_001925.2:p.Tyr154Cys
NM_138281.2:c.677A>G	NP_612138.1:p.Tyr226Cys
XM_011524459.1:c.461A>G	XP_011522761.1:p.Tyr154Cys
XM_017024291.1:c.461A>G	XP_016879780.1:p.Tyr154Cys
NM_138281.3:c.677A>G MANE Select	NP_612138.1:p.Tyr226Cys
NM_001934.4:c.461A>G	NP_001925.2:p.Tyr154Cys