Canonical Allele Identifier: CA400168427

Gene: DLX4

Linked Data

• dbSNP Id: rs1375181217
• gnomAD v4: 17-49973813-C-G
• MyVariant Identifiers: chr17:g.48051177C>G (hg19) ; chr17:g.49973813C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1474C>G
ENST00000240306.5:c.593C>G MANE Select	ENSP00000240306.3:p.Ser198Cys
ENST00000240306.4:c.593C>G	ENSP00000240306.3:p.Ser198Cys
ENST00000411890.3:c.377C>G	ENSP00000410622.2:p.Ser126Cys
ENST00000611342.1:c.*463C>G	ENSP00000480366.1:n.*463C>G
NM_001934.3:c.377C>G	NP_001925.2:p.Ser126Cys
NM_138281.2:c.593C>G	NP_612138.1:p.Ser198Cys
XM_011524459.1:c.377C>G	XP_011522761.1:p.Ser126Cys
XM_017024291.1:c.377C>G	XP_016879780.1:p.Ser126Cys
NM_138281.3:c.593C>G MANE Select	NP_612138.1:p.Ser198Cys
NM_001934.4:c.377C>G	NP_001925.2:p.Ser126Cys