Canonical Allele Identifier: CA400168334

Gene: DLX4

Linked Data

• gnomAD v4: 17-49973795-T-C
• MyVariant Identifiers: chr17:g.48051159T>C (hg19) ; chr17:g.49973795T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973795T>C , CM000679.2:g.49973795T>C	GRCh38
NC_000017.10:g.48051159T>C , CM000679.1:g.48051159T>C	GRCh37
NC_000017.9:g.45406158T>C	NCBI36
NG_030592.1:g.9598T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1456T>C
ENST00000240306.5:c.575T>C MANE Select	ENSP00000240306.3:p.Phe192Ser
ENST00000240306.4:c.575T>C	ENSP00000240306.3:p.Phe192Ser
ENST00000411890.3:c.359T>C	ENSP00000410622.2:p.Phe120Ser
ENST00000611342.1:c.*445T>C	ENSP00000480366.1:n.*445T>C
NM_001934.3:c.359T>C	NP_001925.2:p.Phe120Ser
NM_138281.2:c.575T>C	NP_612138.1:p.Phe192Ser
XM_011524459.1:c.359T>C	XP_011522761.1:p.Phe120Ser
XM_017024291.1:c.359T>C	XP_016879780.1:p.Phe120Ser
NM_138281.3:c.575T>C MANE Select	NP_612138.1:p.Phe192Ser
NM_001934.4:c.359T>C	NP_001925.2:p.Phe120Ser