Canonical Allele Identifier: CA400168582

Gene: DLX4

Linked Data

• dbSNP Id: rs1439446522
• gnomAD v2: 17-48051216-G-T
• MyVariant Identifiers: chr17:g.48051216G>T (hg19) ; chr17:g.49973852G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973852G>T , CM000679.2:g.49973852G>T	GRCh38
NC_000017.10:g.48051216G>T , CM000679.1:g.48051216G>T	GRCh37
NC_000017.9:g.45406215G>T	NCBI36
NG_030592.1:g.9655G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1513G>T
ENST00000240306.5:c.632G>T MANE Select	ENSP00000240306.3:p.Gly211Val
ENST00000240306.4:c.632G>T	ENSP00000240306.3:p.Gly211Val
ENST00000411890.3:c.416G>T	ENSP00000410622.2:p.Gly139Val
ENST00000611342.1:c.*502G>T	ENSP00000480366.1:n.*502G>T
NM_001934.3:c.416G>T	NP_001925.2:p.Gly139Val
NM_138281.2:c.632G>T	NP_612138.1:p.Gly211Val
XM_011524459.1:c.416G>T	XP_011522761.1:p.Gly139Val
XM_017024291.1:c.416G>T	XP_016879780.1:p.Gly139Val
NM_138281.3:c.632G>T MANE Select	NP_612138.1:p.Gly211Val
NM_001934.4:c.416G>T	NP_001925.2:p.Gly139Val