Canonical Allele Identifier: CA400168629

Gene: DLX4

Linked Data

• MyVariant Identifiers: chr17:g.48051231G>T (hg19) ; chr17:g.49973867G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973867G>T , CM000679.2:g.49973867G>T	GRCh38
NC_000017.10:g.48051231G>T , CM000679.1:g.48051231G>T	GRCh37
NC_000017.9:g.45406230G>T	NCBI36
NG_030592.1:g.9670G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1528G>T
ENST00000240306.5:c.647G>T MANE Select	ENSP00000240306.3:p.Ser216Ile
ENST00000240306.4:c.647G>T	ENSP00000240306.3:p.Ser216Ile
ENST00000411890.3:c.431G>T	ENSP00000410622.2:p.Ser144Ile
ENST00000611342.1:c.*517G>T	ENSP00000480366.1:n.*517G>T
NM_001934.3:c.431G>T	NP_001925.2:p.Ser144Ile
NM_138281.2:c.647G>T	NP_612138.1:p.Ser216Ile
XM_011524459.1:c.431G>T	XP_011522761.1:p.Ser144Ile
XM_017024291.1:c.431G>T	XP_016879780.1:p.Ser144Ile
NM_138281.3:c.647G>T MANE Select	NP_612138.1:p.Ser216Ile
NM_001934.4:c.431G>T	NP_001925.2:p.Ser144Ile