Canonical Allele Identifier: CA6843711

Gene: DIABLO B3GNT4

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.122208273T>C , CM000674.2:g.122208273T>C	GRCh38
NC_000012.11:g.122692820T>C , CM000674.1:g.122692820T>C	GRCh37
NC_000012.10:g.121258773T>C	NCBI36
NG_029459.1:g.24249A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001371333.1:c.*108A>G (DIABLO) MANE Select	NP_001358262.1:n.*108A>G
NM_030765.4:c.*885T>C (B3GNT4) MANE Select	NP_110392.1:n.*885T>C
ENST00000324189.5:c.*885T>C (B3GNT4) MANE Select	ENSP00000319636.4:n.*885T>C
ENST00000464942.7:c.*108A>G (DIABLO) MANE Select	ENSP00000442360.2:n.*108A>G
NM_001278302.1:c.*108A>G (DIABLO)	NP_001265231.1:n.*108A>G
NM_001278303.1:c.*108A>G (DIABLO)	NP_001265232.1:n.*108A>G
NM_001278304.1:c.*108A>G (DIABLO)	NP_001265233.1:n.*108A>G
NM_001278304.2:c.*108A>G (DIABLO)	NP_001265233.1:n.*108A>G
NM_001278342.1:c.*108A>G (DIABLO)	NP_001265271.1:n.*108A>G
NM_001330492.1:c.*885T>C (B3GNT4)	NP_001317421.1:n.*885T>C
NM_001330492.2:c.*885T>C (B3GNT4)	NP_001317421.1:n.*885T>C
NM_019887.5:c.*108A>G (DIABLO)	NP_063940.1:n.*108A>G
NM_019887.6:c.*108A>G (DIABLO)	NP_063940.1:n.*108A>G
NM_030765.3:c.*885T>C (B3GNT4)	NP_110392.1:n.*885T>C
NM_138930.3:c.*108A>G (DIABLO)	NP_620308.1:n.*108A>G
ENST00000267169.10:c.*108A>G (DIABLO)	ENSP00000267169.6:n.*108A>G
ENST00000267169.11:c.*284A>G (DIABLO)	ENSP00000267169.7:n.*284A>G
ENST00000342392.3:c.*658A>G (DIABLO)	ENSP00000339963.3:n.*658A>G
ENST00000353548.10:c.*108A>G (DIABLO)	ENSP00000320343.6:n.*108A>G
ENST00000353548.11:c.*108A>G (DIABLO)	ENSP00000320343.6:n.*108A>G
ENST00000413918.5:c.*108A>G (DIABLO)	ENSP00000411638.2:n.*108A>G
ENST00000443649.7:c.*108A>G (DIABLO)	ENSP00000398495.3:n.*108A>G
ENST00000443649.9:c.*108A>G (DIABLO)	ENSP00000398495.4:n.*108A>G
ENST00000464942.6:c.*108A>G (DIABLO)	ENSP00000442360.1:n.*108A>G
ENST00000489781.3:n.1433A>G (DIABLO)
ENST00000535844.1:c.*622A>G	ENSP00000454454.1:n.*622A>G
ENST00000540535.6:c.*742A>G (DIABLO)	ENSP00000441139.2:n.*742A>G
ENST00000545141.1:n.191-207T>C (B3GNT4)
ENST00000546192.1:c.*885T>C (B3GNT4)	ENSP00000438840.1:n.*885T>C
ENST00000642640.1:n.2672A>G (DIABLO)
ENST00000644227.1:c.*608A>G (DIABLO)	ENSP00000494535.1:n.*608A>G
ENST00000644509.1:n.2063A>G (DIABLO)
ENST00000645569.1:n.2156A>G (DIABLO)
ENST00000645606.1:c.*1243A>G	ENSP00000493911.1:n.*1243A>G
ENST00000650715.1:c.*108A>G (DIABLO)	ENSP00000499058.1:n.*108A>G