Canonical Allele Identifier: CA500989011
Gene: DLX4 HGNC NCBI

Linked Data

dbSNP Id: rs761130785
MyVariant Identifiers: chr17:g.48051238T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.49973874T>C , CM000679.2:g.49973874T>C GRCh38
NC_000017.10:g.48051238T>C , CM000679.1:g.48051238T>C GRCh37
NC_000017.9:g.45406237T>C NCBI36
NG_030592.1:g.9677T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706528.1:n.1535T>C
ENST00000240306.5:c.654T>C MANE Select ENSP00000240306.3:p.Tyr218=
ENST00000240306.4:c.654T>C ENSP00000240306.3:p.Tyr218=
ENST00000411890.3:c.438T>C ENSP00000410622.2:p.Tyr146=
ENST00000611342.1:c.*524T>C ENSP00000480366.1:n.*524T>C
NM_001934.3:c.438T>C NP_001925.2:p.Tyr146=
NM_138281.2:c.654T>C NP_612138.1:p.Tyr218=
XM_011524459.1:c.438T>C XP_011522761.1:p.Tyr146=
XM_017024291.1:c.438T>C XP_016879780.1:p.Tyr146=
NM_138281.3:c.654T>C MANE Select NP_612138.1:p.Tyr218=
NM_001934.4:c.438T>C NP_001925.2:p.Tyr146=