Canonical Allele Identifier: CA8640816
Community Standard Title: NM_138281.3(DLX4):c.435C>T (p.Pro145=)
Gene: DLX4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.49973224C>T , CM000679.2:g.49973224C>T GRCh38
NC_000017.10:g.48050588C>T , CM000679.1:g.48050588C>T GRCh37
NC_000017.9:g.45405587C>T NCBI36
NG_030592.1:g.9027C>T

Transcript Alleles

HGVS Amino-acid Change
NM_138281.3:c.435C>T MANE Select NP_612138.1:p.Pro145=
ENST00000240306.5:c.435C>T MANE Select ENSP00000240306.3:p.Pro145=
NM_001934.3:c.219C>T NP_001925.2:p.Pro73=
NM_001934.4:c.219C>T NP_001925.2:p.Pro73=
NM_138281.2:c.435C>T NP_612138.1:p.Pro145=
ENST00000240306.4:c.435C>T ENSP00000240306.3:p.Pro145=
ENST00000411890.3:c.219C>T ENSP00000410622.2:p.Pro73=
ENST00000503276.2:n.1104C>T
ENST00000611342.1:c.219C>T ENSP00000480366.1:p.Pro73=
ENST00000706528.1:n.1316C>T
XM_011524459.1:c.219C>T XP_011522761.1:p.Pro73=
XM_017024291.1:c.219C>T XP_016879780.1:p.Pro73=