Canonical Allele Identifier: CA400168294

Gene: DLX4

Linked Data

• dbSNP Id: rs1905613791
• gnomAD v4: 17-49973789-G-A
• MyVariant Identifiers: chr17:g.48051153G>A (hg19) ; chr17:g.49973789G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973789G>A , CM000679.2:g.49973789G>A	GRCh38
NC_000017.10:g.48051153G>A , CM000679.1:g.48051153G>A	GRCh37
NC_000017.9:g.45406152G>A	NCBI36
NG_030592.1:g.9592G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1450G>A
ENST00000240306.5:c.569G>A MANE Select	ENSP00000240306.3:p.Arg190Lys
ENST00000240306.4:c.569G>A	ENSP00000240306.3:p.Arg190Lys
ENST00000411890.3:c.353G>A	ENSP00000410622.2:p.Arg118Lys
ENST00000611342.1:c.*439G>A	ENSP00000480366.1:n.*439G>A
NM_001934.3:c.353G>A	NP_001925.2:p.Arg118Lys
NM_138281.2:c.569G>A	NP_612138.1:p.Arg190Lys
XM_011524459.1:c.353G>A	XP_011522761.1:p.Arg118Lys
XM_017024291.1:c.353G>A	XP_016879780.1:p.Arg118Lys
NM_138281.3:c.569G>A MANE Select	NP_612138.1:p.Arg190Lys
NM_001934.4:c.353G>A	NP_001925.2:p.Arg118Lys