Canonical Allele Identifier: CA400168613

Gene: DLX4

Linked Data

• gnomAD v3: 17-49973863-A-C
• gnomAD v4: 17-49973863-A-C
• MyVariant Identifiers: chr17:g.48051227A>C (hg19) ; chr17:g.49973863A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973863A>C , CM000679.2:g.49973863A>C	GRCh38
NC_000017.10:g.48051227A>C , CM000679.1:g.48051227A>C	GRCh37
NC_000017.9:g.45406226A>C	NCBI36
NG_030592.1:g.9666A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1524A>C
ENST00000240306.5:c.643A>C MANE Select	ENSP00000240306.3:p.Thr215Pro
ENST00000240306.4:c.643A>C	ENSP00000240306.3:p.Thr215Pro
ENST00000411890.3:c.427A>C	ENSP00000410622.2:p.Thr143Pro
ENST00000611342.1:c.*513A>C	ENSP00000480366.1:n.*513A>C
NM_001934.3:c.427A>C	NP_001925.2:p.Thr143Pro
NM_138281.2:c.643A>C	NP_612138.1:p.Thr215Pro
XM_011524459.1:c.427A>C	XP_011522761.1:p.Thr143Pro
XM_017024291.1:c.427A>C	XP_016879780.1:p.Thr143Pro
NM_138281.3:c.643A>C MANE Select	NP_612138.1:p.Thr215Pro
NM_001934.4:c.427A>C	NP_001925.2:p.Thr143Pro