Canonical Allele Identifier: CA500989096

Gene: DLX4

Linked Data

• gnomAD v4: 17-49973826-C-T
• MyVariant Identifiers: chr17:g.48051190C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973826C>T , CM000679.2:g.49973826C>T	GRCh38
NC_000017.10:g.48051190C>T , CM000679.1:g.48051190C>T	GRCh37
NC_000017.9:g.45406189C>T	NCBI36
NG_030592.1:g.9629C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1487C>T
ENST00000240306.5:c.606C>T MANE Select	ENSP00000240306.3:p.Pro202=
ENST00000240306.4:c.606C>T	ENSP00000240306.3:p.Pro202=
ENST00000411890.3:c.390C>T	ENSP00000410622.2:p.Pro130=
ENST00000611342.1:c.*476C>T	ENSP00000480366.1:n.*476C>T
NM_001934.3:c.390C>T	NP_001925.2:p.Pro130=
NM_138281.2:c.606C>T	NP_612138.1:p.Pro202=
XM_011524459.1:c.390C>T	XP_011522761.1:p.Pro130=
XM_017024291.1:c.390C>T	XP_016879780.1:p.Pro130=
NM_138281.3:c.606C>T MANE Select	NP_612138.1:p.Pro202=
NM_001934.4:c.390C>T	NP_001925.2:p.Pro130=