Canonical Allele Identifier: CA400168425

Gene: DLX4

Linked Data

• gnomAD v4: 17-49973813-C-A
• MyVariant Identifiers: chr17:g.48051177C>A (hg19) ; chr17:g.49973813C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973813C>A , CM000679.2:g.49973813C>A	GRCh38
NC_000017.10:g.48051177C>A , CM000679.1:g.48051177C>A	GRCh37
NC_000017.9:g.45406176C>A	NCBI36
NG_030592.1:g.9616C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1474C>A
ENST00000240306.5:c.593C>A MANE Select	ENSP00000240306.3:p.Ser198Tyr
ENST00000240306.4:c.593C>A	ENSP00000240306.3:p.Ser198Tyr
ENST00000411890.3:c.377C>A	ENSP00000410622.2:p.Ser126Tyr
ENST00000611342.1:c.*463C>A	ENSP00000480366.1:n.*463C>A
NM_001934.3:c.377C>A	NP_001925.2:p.Ser126Tyr
NM_138281.2:c.593C>A	NP_612138.1:p.Ser198Tyr
XM_011524459.1:c.377C>A	XP_011522761.1:p.Ser126Tyr
XM_017024291.1:c.377C>A	XP_016879780.1:p.Ser126Tyr
NM_138281.3:c.593C>A MANE Select	NP_612138.1:p.Ser198Tyr
NM_001934.4:c.377C>A	NP_001925.2:p.Ser126Tyr