Canonical Allele Identifier: CA2638666582

Gene: DLX4

Linked Data

• gnomAD v4: 17-49974260-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49974260C>T , CM000679.2:g.49974260C>T	GRCh38
NC_000017.10:g.48051624C>T , CM000679.1:g.48051624C>T	GRCh37
NC_000017.9:g.45406623C>T	NCBI36
NG_030592.1:g.10063C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1921C>T
ENST00000240306.5:c.*317C>T MANE Select	ENSP00000240306.3:n.*317C>T
ENST00000240306.4:c.*317C>T	ENSP00000240306.3:n.*317C>T
ENST00000411890.3:c.*317C>T	ENSP00000410622.2:n.*317C>T
ENST00000611342.1:c.*910C>T	ENSP00000480366.1:n.*910C>T
NM_001934.3:c.*317C>T	NP_001925.2:n.*317C>T
NM_138281.2:c.*317C>T	NP_612138.1:n.*317C>T
XM_011524459.1:c.*317C>T	XP_011522761.1:n.*317C>T
XM_017024291.1:c.*317C>T	XP_016879780.1:n.*317C>T
NM_138281.3:c.*317C>T MANE Select	NP_612138.1:n.*317C>T
NM_001934.4:c.*317C>T	NP_001925.2:n.*317C>T