Canonical Allele Identifier: CA400168873

Gene: DLX4

Linked Data

• gnomAD v4: 17-49973927-C-G
• MyVariant Identifiers: chr17:g.48051291C>G (hg19) ; chr17:g.49973927C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973927C>G , CM000679.2:g.49973927C>G	GRCh38
NC_000017.10:g.48051291C>G , CM000679.1:g.48051291C>G	GRCh37
NC_000017.9:g.45406290C>G	NCBI36
NG_030592.1:g.9730C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1588C>G
ENST00000240306.5:c.707C>G MANE Select	ENSP00000240306.3:p.Ser236Trp
ENST00000240306.4:c.707C>G	ENSP00000240306.3:p.Ser236Trp
ENST00000411890.3:c.491C>G	ENSP00000410622.2:p.Ser164Trp
ENST00000611342.1:c.*577C>G	ENSP00000480366.1:n.*577C>G
NM_001934.3:c.491C>G	NP_001925.2:p.Ser164Trp
NM_138281.2:c.707C>G	NP_612138.1:p.Ser236Trp
XM_011524459.1:c.491C>G	XP_011522761.1:p.Ser164Trp
XM_017024291.1:c.491C>G	XP_016879780.1:p.Ser164Trp
NM_138281.3:c.707C>G MANE Select	NP_612138.1:p.Ser236Trp
NM_001934.4:c.491C>G	NP_001925.2:p.Ser164Trp