Canonical Allele Identifier: CA500989112

Gene: DLX4

Linked Data

• MyVariant Identifiers: chr17:g.48051214A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973850A>C , CM000679.2:g.49973850A>C	GRCh38
NC_000017.10:g.48051214A>C , CM000679.1:g.48051214A>C	GRCh37
NC_000017.9:g.45406213A>C	NCBI36
NG_030592.1:g.9653A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1511A>C
ENST00000240306.5:c.630A>C MANE Select	ENSP00000240306.3:p.Ala210=
ENST00000240306.4:c.630A>C	ENSP00000240306.3:p.Ala210=
ENST00000411890.3:c.414A>C	ENSP00000410622.2:p.Ala138=
ENST00000611342.1:c.*500A>C	ENSP00000480366.1:n.*500A>C
NM_001934.3:c.414A>C	NP_001925.2:p.Ala138=
NM_138281.2:c.630A>C	NP_612138.1:p.Ala210=
XM_011524459.1:c.414A>C	XP_011522761.1:p.Ala138=
XM_017024291.1:c.414A>C	XP_016879780.1:p.Ala138=
NM_138281.3:c.630A>C MANE Select	NP_612138.1:p.Ala210=
NM_001934.4:c.414A>C	NP_001925.2:p.Ala138=