Canonical Allele Identifier: CA400168432

Gene: DLX4

Linked Data

• MyVariant Identifiers: chr17:g.48051179C>A (hg19) ; chr17:g.49973815C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973815C>A , CM000679.2:g.49973815C>A	GRCh38
NC_000017.10:g.48051179C>A , CM000679.1:g.48051179C>A	GRCh37
NC_000017.9:g.45406178C>A	NCBI36
NG_030592.1:g.9618C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1476C>A
ENST00000240306.5:c.595C>A MANE Select	ENSP00000240306.3:p.Pro199Thr
ENST00000240306.4:c.595C>A	ENSP00000240306.3:p.Pro199Thr
ENST00000411890.3:c.379C>A	ENSP00000410622.2:p.Pro127Thr
ENST00000611342.1:c.*465C>A	ENSP00000480366.1:n.*465C>A
NM_001934.3:c.379C>A	NP_001925.2:p.Pro127Thr
NM_138281.2:c.595C>A	NP_612138.1:p.Pro199Thr
XM_011524459.1:c.379C>A	XP_011522761.1:p.Pro127Thr
XM_017024291.1:c.379C>A	XP_016879780.1:p.Pro127Thr
NM_138281.3:c.595C>A MANE Select	NP_612138.1:p.Pro199Thr
NM_001934.4:c.379C>A	NP_001925.2:p.Pro127Thr