Canonical Allele Identifier: CA396677851

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72060483T>G , CM000678.2:g.72060483T>G GRCh38
NC_000016.9:g.72094382T>G , CM000678.1:g.72094382T>G GRCh37
NC_000016.8:g.70651883T>G NCBI36
NG_012651.1:g.10875T>G
NG_030311.1:g.2258T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355906.10:c.814T>G (HP) MANE Select ENSP00000348170.5:p.Tyr272Asp
ENST00000228226.12:c.439T>G (HP) ENSP00000228226.9:p.Tyr147Asp
ENST00000355906.9:c.814T>G (HP) ENSP00000348170.5:p.Tyr272Asp
ENST00000357763.8:c.922T>G (HP) ENSP00000350406.5:p.Tyr308Asp
ENST00000398131.6:c.637T>G (HP) ENSP00000381199.2:p.Tyr213Asp
ENST00000562153.5:c.285-16126A>C (TXNL4B) ENSP00000454635.1:n.285-16126A>C
ENST00000562526.5:c.266-180T>G (HP) ENSP00000454413.1:n.266-180T>G
ENST00000564499.5:c.517T>G (HP) ENSP00000456503.1:p.Tyr173Asp
ENST00000565574.5:c.637T>G (HP) ENSP00000454966.1:p.Tyr213Asp
ENST00000566821.1:n.2453T>G (HP)
ENST00000567185.7:c.806T>G (HP)
ENST00000567612.2:c.689T>G (HP)
ENST00000570083.5:c.637T>G (HP) ENSP00000457629.1:p.Tyr213Asp
ENST00000613898.1:c.439T>G (HP) ENSP00000478279.1:p.Tyr147Asp
NM_001126102.1:c.637T>G (HP) NP_001119574.1:p.Tyr213Asp
NM_005143.3:c.814T>G (HP) NP_005134.1:p.Tyr272Asp
XM_005255922.3:c.637T>G (HP) XP_005255979.2:p.Tyr213Asp
NM_001126102.2:c.637T>G (HP) NP_001119574.1:p.Tyr213Asp
NM_001318138.1:c.637T>G (HP) NP_001305067.1:p.Tyr213Asp
NM_005143.4:c.814T>G (HP) NP_005134.1:p.Tyr272Asp
XM_017023377.2:c.285-16126A>C (TXNL4B) XP_016878866.1:n.285-16126A>C
NM_001318138.2:c.637T>G (HP) NP_001305067.1:p.Tyr213Asp
NM_005143.5:c.814T>G (HP) MANE Select NP_005134.1:p.Tyr272Asp
NM_001126102.3:c.637T>G (HP) NP_001119574.1:p.Tyr213Asp