Canonical Allele Identifier: CA500988996
Gene: DLX4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.48051226C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.49973862C>A , CM000679.2:g.49973862C>A GRCh38
NC_000017.10:g.48051226C>A , CM000679.1:g.48051226C>A GRCh37
NC_000017.9:g.45406225C>A NCBI36
NG_030592.1:g.9665C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706528.1:n.1523C>A
ENST00000240306.5:c.642C>A MANE Select ENSP00000240306.3:p.Pro214=
ENST00000240306.4:c.642C>A ENSP00000240306.3:p.Pro214=
ENST00000411890.3:c.426C>A ENSP00000410622.2:p.Pro142=
ENST00000611342.1:c.*512C>A ENSP00000480366.1:n.*512C>A
NM_001934.3:c.426C>A NP_001925.2:p.Pro142=
NM_138281.2:c.642C>A NP_612138.1:p.Pro214=
XM_011524459.1:c.426C>A XP_011522761.1:p.Pro142=
XM_017024291.1:c.426C>A XP_016879780.1:p.Pro142=
NM_138281.3:c.642C>A MANE Select NP_612138.1:p.Pro214=
NM_001934.4:c.426C>A NP_001925.2:p.Pro142=