Canonical Allele Identifier: CA8640878

Gene: DLX4

Linked Data

• dbSNP Id: rs552458439
• ExAC: 17:48051170 C / T
• gnomAD v2: 17-48051170-C-T
• gnomAD v4: 17-49973806-C-T
• MyVariant Identifiers: chr17:g.48051170C>T (hg19) ; chr17:g.49973806C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973806C>T , CM000679.2:g.49973806C>T	GRCh38
NC_000017.10:g.48051170C>T , CM000679.1:g.48051170C>T	GRCh37
NC_000017.9:g.45406169C>T	NCBI36
NG_030592.1:g.9609C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1467C>T
ENST00000240306.5:c.586C>T MANE Select	ENSP00000240306.3:p.Pro196Ser
ENST00000240306.4:c.586C>T	ENSP00000240306.3:p.Pro196Ser
ENST00000411890.3:c.370C>T	ENSP00000410622.2:p.Pro124Ser
ENST00000611342.1:c.*456C>T	ENSP00000480366.1:n.*456C>T
NM_001934.3:c.370C>T	NP_001925.2:p.Pro124Ser
NM_138281.2:c.586C>T	NP_612138.1:p.Pro196Ser
XM_011524459.1:c.370C>T	XP_011522761.1:p.Pro124Ser
XM_017024291.1:c.370C>T	XP_016879780.1:p.Pro124Ser
NM_138281.3:c.586C>T MANE Select	NP_612138.1:p.Pro196Ser
NM_001934.4:c.370C>T	NP_001925.2:p.Pro124Ser