Canonical Allele Identifier: CA396677916

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72060513T>A , CM000678.2:g.72060513T>A GRCh38
NC_000016.9:g.72094412T>A , CM000678.1:g.72094412T>A GRCh37
NC_000016.8:g.70651913T>A NCBI36
NG_012651.1:g.10905T>A
NG_030311.1:g.2288T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355906.10:c.844T>A (HP) MANE Select ENSP00000348170.5:p.Ser282Thr
ENST00000228226.12:c.469T>A (HP) ENSP00000228226.9:p.Ser157Thr
ENST00000355906.9:c.844T>A (HP) ENSP00000348170.5:p.Ser282Thr
ENST00000357763.8:c.952T>A (HP) ENSP00000350406.5:p.Ser318Thr
ENST00000398131.6:c.667T>A (HP) ENSP00000381199.2:p.Ser223Thr
ENST00000562153.5:c.285-16156A>T (TXNL4B) ENSP00000454635.1:n.285-16156A>T
ENST00000562526.5:c.266-150T>A (HP) ENSP00000454413.1:n.266-150T>A
ENST00000564499.5:c.547T>A (HP) ENSP00000456503.1:p.Ser183Thr
ENST00000565574.5:c.667T>A (HP) ENSP00000454966.1:p.Ser223Thr
ENST00000566821.1:n.2483T>A (HP)
ENST00000567185.7:c.836T>A (HP)
ENST00000567612.2:c.719T>A (HP)
ENST00000570083.5:c.667T>A (HP) ENSP00000457629.1:p.Ser223Thr
ENST00000613898.1:c.469T>A (HP) ENSP00000478279.1:p.Ser157Thr
NM_001126102.1:c.667T>A (HP) NP_001119574.1:p.Ser223Thr
NM_005143.3:c.844T>A (HP) NP_005134.1:p.Ser282Thr
XM_005255922.3:c.667T>A (HP) XP_005255979.2:p.Ser223Thr
NM_001126102.2:c.667T>A (HP) NP_001119574.1:p.Ser223Thr
NM_001318138.1:c.667T>A (HP) NP_001305067.1:p.Ser223Thr
NM_005143.4:c.844T>A (HP) NP_005134.1:p.Ser282Thr
XM_017023377.2:c.285-16156A>T (TXNL4B) XP_016878866.1:n.285-16156A>T
NM_001318138.2:c.667T>A (HP) NP_001305067.1:p.Ser223Thr
NM_005143.5:c.844T>A (HP) MANE Select NP_005134.1:p.Ser282Thr
NM_001126102.3:c.667T>A (HP) NP_001119574.1:p.Ser223Thr