Canonical Allele Identifier: CA626475063
Gene: DLX4 HGNC NCBI

Linked Data

dbSNP Id: rs1417034856
gnomAD v2: 17-48051580-G-A
gnomAD v3: 17-49974216-G-A
gnomAD v4: 17-49974216-G-A
MyVariant Identifiers: chr17:g.48051580G>A (hg19) chr17:g.49974216G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.49974216G>A , CM000679.2:g.49974216G>A GRCh38
NC_000017.10:g.48051580G>A , CM000679.1:g.48051580G>A GRCh37
NC_000017.9:g.45406579G>A NCBI36
NG_030592.1:g.10019G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000706528.1:n.1877G>A
ENST00000240306.5:c.*273G>A MANE Select ENSP00000240306.3:n.*273G>A
ENST00000240306.4:c.*273G>A ENSP00000240306.3:n.*273G>A
ENST00000411890.3:c.*273G>A ENSP00000410622.2:n.*273G>A
ENST00000611342.1:c.*866G>A ENSP00000480366.1:n.*866G>A
NM_001934.3:c.*273G>A NP_001925.2:n.*273G>A
NM_138281.2:c.*273G>A NP_612138.1:n.*273G>A
XM_011524459.1:c.*273G>A XP_011522761.1:n.*273G>A
XM_017024291.1:c.*273G>A XP_016879780.1:n.*273G>A
NM_138281.3:c.*273G>A MANE Select NP_612138.1:n.*273G>A
NM_001934.4:c.*273G>A NP_001925.2:n.*273G>A
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