Canonical Allele Identifier: CA396677903

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72060507T>C , CM000678.2:g.72060507T>C GRCh38
NC_000016.9:g.72094406T>C , CM000678.1:g.72094406T>C GRCh37
NC_000016.8:g.70651907T>C NCBI36
NG_012651.1:g.10899T>C
NG_030311.1:g.2282T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355906.10:c.838T>C (HP) MANE Select ENSP00000348170.5:p.Tyr280His
ENST00000228226.12:c.463T>C (HP) ENSP00000228226.9:p.Tyr155His
ENST00000355906.9:c.838T>C (HP) ENSP00000348170.5:p.Tyr280His
ENST00000357763.8:c.946T>C (HP) ENSP00000350406.5:p.Tyr316His
ENST00000398131.6:c.661T>C (HP) ENSP00000381199.2:p.Tyr221His
ENST00000562153.5:c.285-16150A>G (TXNL4B) ENSP00000454635.1:n.285-16150A>G
ENST00000562526.5:c.266-156T>C (HP) ENSP00000454413.1:n.266-156T>C
ENST00000564499.5:c.541T>C (HP) ENSP00000456503.1:p.Tyr181His
ENST00000565574.5:c.661T>C (HP) ENSP00000454966.1:p.Tyr221His
ENST00000566821.1:n.2477T>C (HP)
ENST00000567185.7:c.830T>C (HP)
ENST00000567612.2:c.713T>C (HP)
ENST00000570083.5:c.661T>C (HP) ENSP00000457629.1:p.Tyr221His
ENST00000613898.1:c.463T>C (HP) ENSP00000478279.1:p.Tyr155His
NM_001126102.1:c.661T>C (HP) NP_001119574.1:p.Tyr221His
NM_005143.3:c.838T>C (HP) NP_005134.1:p.Tyr280His
XM_005255922.3:c.661T>C (HP) XP_005255979.2:p.Tyr221His
NM_001126102.2:c.661T>C (HP) NP_001119574.1:p.Tyr221His
NM_001318138.1:c.661T>C (HP) NP_001305067.1:p.Tyr221His
NM_005143.4:c.838T>C (HP) NP_005134.1:p.Tyr280His
XM_017023377.2:c.285-16150A>G (TXNL4B) XP_016878866.1:n.285-16150A>G
NM_001318138.2:c.661T>C (HP) NP_001305067.1:p.Tyr221His
NM_005143.5:c.838T>C (HP) MANE Select NP_005134.1:p.Tyr280His
NM_001126102.3:c.661T>C (HP) NP_001119574.1:p.Tyr221His