Canonical Allele Identifier: CA400168459

Gene: DLX4

Linked Data

• dbSNP Id: rs748128281
• gnomAD v3: 17-49973822-T-C
• gnomAD v4: 17-49973822-T-C
• MyVariant Identifiers: chr17:g.48051186T>C (hg19) ; chr17:g.49973822T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973822T>C , CM000679.2:g.49973822T>C	GRCh38
NC_000017.10:g.48051186T>C , CM000679.1:g.48051186T>C	GRCh37
NC_000017.9:g.45406185T>C	NCBI36
NG_030592.1:g.9625T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1483T>C
ENST00000240306.5:c.602T>C MANE Select	ENSP00000240306.3:p.Leu201Pro
ENST00000240306.4:c.602T>C	ENSP00000240306.3:p.Leu201Pro
ENST00000411890.3:c.386T>C	ENSP00000410622.2:p.Leu129Pro
ENST00000611342.1:c.*472T>C	ENSP00000480366.1:n.*472T>C
NM_001934.3:c.386T>C	NP_001925.2:p.Leu129Pro
NM_138281.2:c.602T>C	NP_612138.1:p.Leu201Pro
XM_011524459.1:c.386T>C	XP_011522761.1:p.Leu129Pro
XM_017024291.1:c.386T>C	XP_016879780.1:p.Leu129Pro
NM_138281.3:c.602T>C MANE Select	NP_612138.1:p.Leu201Pro
NM_001934.4:c.386T>C	NP_001925.2:p.Leu129Pro