Canonical Allele Identifier: CA2969065
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.76035066T>A , CM000666.2:g.76035066T>A GRCh38
NC_000004.11:g.76956219T>A , CM000666.1:g.76956219T>A GRCh37
NC_000004.10:g.77175243T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000306621.8:c.242A>T (CXCL11) MANE Select ENSP00000306884.3:p.Gln81Leu
ENST00000306621.7:c.242A>T (CXCL11) ENSP00000306884.3:p.Gln81Leu
ENST00000341029.9:c.-10+23746T>A (ART3) ENSP00000343843.5:n.-10+23746T>A
ENST00000503860.1:c.242A>T (CXCL11) ENSP00000425819.1:p.Gln81Leu
ENST00000504914.5:c.-10+22823T>A (ART3) ENSP00000421431.1:n.-10+22823T>A
ENST00000510669.5:n.121+23746T>A (ART3)
ENST00000513122.5:c.-124-22924T>A (ART3) ENSP00000422287.1:n.-124-22924T>A
ENST00000513353.5:c.-43-23526T>A (ART3) ENSP00000421345.1:n.-43-23526T>A
NM_001130017.2:c.-10+23746T>A (ART3) NP_001123489.1:n.-10+23746T>A
NM_001302123.1:c.242A>T (CXCL11) NP_001289052.1:p.Gln81Leu
NM_005409.4:c.242A>T (CXCL11) NP_005400.1:p.Gln81Leu
XM_017008206.2:c.-43-23526T>A (ART3) XP_016863695.1:n.-43-23526T>A
XM_024454051.1:c.-10+23746T>A (ART3) XP_024309819.1:n.-10+23746T>A
XM_024454052.1:c.-124-22924T>A (ART3) XP_024309820.1:n.-124-22924T>A
XM_024454053.1:c.-135-22913T>A (ART3) XP_024309821.1:n.-135-22913T>A
XM_024454063.1:c.-10+23746T>A (ART3) XP_024309831.1:n.-10+23746T>A
NM_001130017.3:c.-10+23746T>A (ART3) NP_001123489.1:n.-10+23746T>A
NM_001302123.2:c.242A>T (CXCL11) NP_001289052.1:p.Gln81Leu
NM_001377177.1:c.-10+23746T>A (ART3) NP_001364106.1:n.-10+23746T>A
NM_001377181.1:c.-10+23746T>A (ART3) NP_001364110.1:n.-10+23746T>A
NM_001377183.1:c.-10+23746T>A (ART3) NP_001364112.1:n.-10+23746T>A
NM_005409.5:c.242A>T (CXCL11) MANE Select NP_005400.1:p.Gln81Leu