Canonical Allele Identifier: CA2231555259

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72060428A= , CM000678.2:g.72060428A= GRCh38
NC_000016.9:g.72094327A= , CM000678.1:g.72094327A= GRCh37
NC_000016.8:g.70651828A= NCBI36
NG_012651.1:g.10820A=
NG_030311.1:g.2203A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355906.10:c.759A= (HP) MANE Select ENSP00000348170.5:p.Lys253=
ENST00000228226.12:c.384A= (HP) ENSP00000228226.9:p.Lys128=
ENST00000355906.9:c.759A= (HP) ENSP00000348170.5:p.Lys253=
ENST00000357763.8:c.867A= (HP) ENSP00000350406.5:p.Lys289=
ENST00000398131.6:c.582A= (HP) ENSP00000381199.2:p.Lys194=
ENST00000562153.5:c.285-16071T= (TXNL4B) ENSP00000454635.1:n.285-16071T=
ENST00000562526.5:c.266-235A= (HP) ENSP00000454413.1:n.266-235A=
ENST00000564499.5:c.462A= (HP) ENSP00000456503.1:p.Lys154=
ENST00000565574.5:c.582A= (HP) ENSP00000454966.1:p.Lys194=
ENST00000566821.1:n.2398A= (HP)
ENST00000567185.7:c.751A= (HP)
ENST00000567612.2:c.634A= (HP)
ENST00000570083.5:c.582A= (HP) ENSP00000457629.1:p.Lys194=
ENST00000613898.1:c.384A= (HP) ENSP00000478279.1:p.Lys128=
NM_001126102.1:c.582A= (HP) NP_001119574.1:p.Lys194=
NM_005143.3:c.759A= (HP) NP_005134.1:p.Lys253=
XM_005255922.3:c.582A= (HP) XP_005255979.2:p.Lys194=
NM_001126102.2:c.582A= (HP) NP_001119574.1:p.Lys194=
NM_001318138.1:c.582A= (HP) NP_001305067.1:p.Lys194=
NM_005143.4:c.759A= (HP) NP_005134.1:p.Lys253=
XM_017023377.2:c.285-16071T= (TXNL4B) XP_016878866.1:n.285-16071T=
NM_001318138.2:c.582A= (HP) NP_001305067.1:p.Lys194=
NM_005143.5:c.759A= (HP) MANE Select NP_005134.1:p.Lys253=
NM_001126102.3:c.582A= (HP) NP_001119574.1:p.Lys194=