Canonical Allele Identifier: CA500989072
Gene: DLX4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.48051286G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.49973922G>T , CM000679.2:g.49973922G>T GRCh38
NC_000017.10:g.48051286G>T , CM000679.1:g.48051286G>T GRCh37
NC_000017.9:g.45406285G>T NCBI36
NG_030592.1:g.9725G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706528.1:n.1583G>T
ENST00000240306.5:c.702G>T MANE Select ENSP00000240306.3:p.Leu234=
ENST00000240306.4:c.702G>T ENSP00000240306.3:p.Leu234=
ENST00000411890.3:c.486G>T ENSP00000410622.2:p.Leu162=
ENST00000611342.1:c.*572G>T ENSP00000480366.1:n.*572G>T
NM_001934.3:c.486G>T NP_001925.2:p.Leu162=
NM_138281.2:c.702G>T NP_612138.1:p.Leu234=
XM_011524459.1:c.486G>T XP_011522761.1:p.Leu162=
XM_017024291.1:c.486G>T XP_016879780.1:p.Leu162=
NM_138281.3:c.702G>T MANE Select NP_612138.1:p.Leu234=
NM_001934.4:c.486G>T NP_001925.2:p.Leu162=