Canonical Allele Identifier: CA2231555107

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72060105T= , CM000678.2:g.72060105T= GRCh38
NC_000016.9:g.72094004T= , CM000678.1:g.72094004T= GRCh37
NC_000016.8:g.70651505T= NCBI36
NG_012651.1:g.10497T=
NG_030311.1:g.1880T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355906.10:c.443-7T= (HP) MANE Select ENSP00000348170.5:n.443-7T=
ENST00000228226.12:c.94-33T= (HP) ENSP00000228226.9:n.94-33T=
ENST00000355906.9:c.443-7T= (HP) ENSP00000348170.5:n.443-7T=
ENST00000357763.8:c.551-7T= (HP) ENSP00000350406.5:n.551-7T=
ENST00000398131.6:c.266-7T= (HP) ENSP00000381199.2:n.266-7T=
ENST00000562153.5:c.285-15748A= (TXNL4B) ENSP00000454635.1:n.285-15748A=
ENST00000562526.5:c.266-558T= (HP) ENSP00000454413.1:n.266-558T=
ENST00000564499.5:c.266-127T= (HP) ENSP00000456503.1:n.266-127T=
ENST00000565574.5:c.266-7T= (HP) ENSP00000454966.1:n.266-7T=
ENST00000566821.1:n.2082-7T= (HP)
ENST00000567185.7:c.435-7T= (HP)
ENST00000567612.2:c.438-127T= (HP)
ENST00000570083.5:c.266-7T= (HP) ENSP00000457629.1:n.266-7T=
ENST00000613898.1:c.95-34T= (HP) ENSP00000478279.1:n.95-34T=
NM_001126102.1:c.266-7T= (HP) NP_001119574.1:n.266-7T=
NM_005143.3:c.443-7T= (HP) NP_005134.1:n.443-7T=
XM_005255922.3:c.266-7T= (HP) XP_005255979.2:n.266-7T=
NM_001126102.2:c.266-7T= (HP) NP_001119574.1:n.266-7T=
NM_001318138.1:c.266-7T= (HP) NP_001305067.1:n.266-7T=
NM_005143.4:c.443-7T= (HP) NP_005134.1:n.443-7T=
XM_017023377.2:c.285-15748A= (TXNL4B) XP_016878866.1:n.285-15748A=
NM_001318138.2:c.266-7T= (HP) NP_001305067.1:n.266-7T=
NM_005143.5:c.443-7T= (HP) MANE Select NP_005134.1:n.443-7T=
NM_001126102.3:c.266-7T= (HP) NP_001119574.1:n.266-7T=