Canonical Allele Identifier: CA400168305

Gene: DLX4

Linked Data

• dbSNP Id: rs1484467467
• gnomAD v3: 17-49973791-A-T
• gnomAD v4: 17-49973791-A-T
• MyVariant Identifiers: chr17:g.48051155A>T (hg19) ; chr17:g.49973791A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973791A>T , CM000679.2:g.49973791A>T	GRCh38
NC_000017.10:g.48051155A>T , CM000679.1:g.48051155A>T	GRCh37
NC_000017.9:g.45406154A>T	NCBI36
NG_030592.1:g.9594A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1452A>T
ENST00000240306.5:c.571A>T MANE Select	ENSP00000240306.3:p.Thr191Ser
ENST00000240306.4:c.571A>T	ENSP00000240306.3:p.Thr191Ser
ENST00000411890.3:c.355A>T	ENSP00000410622.2:p.Thr119Ser
ENST00000611342.1:c.*441A>T	ENSP00000480366.1:n.*441A>T
NM_001934.3:c.355A>T	NP_001925.2:p.Thr119Ser
NM_138281.2:c.571A>T	NP_612138.1:p.Thr191Ser
XM_011524459.1:c.355A>T	XP_011522761.1:p.Thr119Ser
XM_017024291.1:c.355A>T	XP_016879780.1:p.Thr119Ser
NM_138281.3:c.571A>T MANE Select	NP_612138.1:p.Thr191Ser
NM_001934.4:c.355A>T	NP_001925.2:p.Thr119Ser