Canonical Allele Identifier: CA772784166

Gene: DLX4

Linked Data

• dbSNP Id: rs1466242206
• gnomAD v4: 17-49974045-T-C
• MyVariant Identifiers: chr17:g.48051409T>C (hg19) ; chr17:g.49974045T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49974045T>C , CM000679.2:g.49974045T>C	GRCh38
NC_000017.10:g.48051409T>C , CM000679.1:g.48051409T>C	GRCh37
NC_000017.9:g.45406408T>C	NCBI36
NG_030592.1:g.9848T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1706T>C
ENST00000240306.5:c.*102T>C MANE Select	ENSP00000240306.3:n.*102T>C
ENST00000240306.4:c.*102T>C	ENSP00000240306.3:n.*102T>C
ENST00000411890.3:c.*102T>C	ENSP00000410622.2:n.*102T>C
ENST00000611342.1:c.*695T>C	ENSP00000480366.1:n.*695T>C
NM_001934.3:c.*102T>C	NP_001925.2:n.*102T>C
NM_138281.2:c.*102T>C	NP_612138.1:n.*102T>C
XM_011524459.1:c.*102T>C	XP_011522761.1:n.*102T>C
XM_017024291.1:c.*102T>C	XP_016879780.1:n.*102T>C
NM_138281.3:c.*102T>C MANE Select	NP_612138.1:n.*102T>C
NM_001934.4:c.*102T>C	NP_001925.2:n.*102T>C