Canonical Allele Identifier: CA400168583

Gene: DLX4

Linked Data

• dbSNP Id: rs1323293591
• MyVariant Identifiers: chr17:g.48051218A>C (hg19) ; chr17:g.49973854A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973854A>C , CM000679.2:g.49973854A>C	GRCh38
NC_000017.10:g.48051218A>C , CM000679.1:g.48051218A>C	GRCh37
NC_000017.9:g.45406217A>C	NCBI36
NG_030592.1:g.9657A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1515A>C
ENST00000240306.5:c.634A>C MANE Select	ENSP00000240306.3:p.Thr212Pro
ENST00000240306.4:c.634A>C	ENSP00000240306.3:p.Thr212Pro
ENST00000411890.3:c.418A>C	ENSP00000410622.2:p.Thr140Pro
ENST00000611342.1:c.*504A>C	ENSP00000480366.1:n.*504A>C
NM_001934.3:c.418A>C	NP_001925.2:p.Thr140Pro
NM_138281.2:c.634A>C	NP_612138.1:p.Thr212Pro
XM_011524459.1:c.418A>C	XP_011522761.1:p.Thr140Pro
XM_017024291.1:c.418A>C	XP_016879780.1:p.Thr140Pro
NM_138281.3:c.634A>C MANE Select	NP_612138.1:p.Thr212Pro
NM_001934.4:c.418A>C	NP_001925.2:p.Thr140Pro