Canonical Allele Identifier: CA396678060

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72060580C>A , CM000678.2:g.72060580C>A GRCh38
NC_000016.9:g.72094479C>A , CM000678.1:g.72094479C>A GRCh37
NC_000016.8:g.70651980C>A NCBI36
NG_012651.1:g.10972C>A
NG_030311.1:g.2355C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355906.10:c.911C>A (HP) MANE Select ENSP00000348170.5:p.Ala304Asp
ENST00000228226.12:c.536C>A (HP) ENSP00000228226.9:p.Ala179Asp
ENST00000355906.9:c.911C>A (HP) ENSP00000348170.5:p.Ala304Asp
ENST00000357763.8:c.1019C>A (HP) ENSP00000350406.5:p.Ala340Asp
ENST00000398131.6:c.734C>A (HP) ENSP00000381199.2:p.Ala245Asp
ENST00000562153.5:c.285-16223G>T (TXNL4B) ENSP00000454635.1:n.285-16223G>T
ENST00000562526.5:c.266-83C>A (HP) ENSP00000454413.1:n.266-83C>A
ENST00000564499.5:c.614C>A (HP) ENSP00000456503.1:p.Ala205Asp
ENST00000565574.5:c.734C>A (HP) ENSP00000454966.1:p.Ala245Asp
ENST00000566821.1:n.2550C>A (HP)
ENST00000567185.7:c.903C>A (HP)
ENST00000567612.2:c.786C>A (HP)
ENST00000570083.5:c.734C>A (HP) ENSP00000457629.1:p.Ala245Asp
ENST00000613898.1:c.536C>A (HP) ENSP00000478279.1:p.Ala179Asp
NM_001126102.1:c.734C>A (HP) NP_001119574.1:p.Ala245Asp
NM_005143.3:c.911C>A (HP) NP_005134.1:p.Ala304Asp
XM_005255922.3:c.734C>A (HP) XP_005255979.2:p.Ala245Asp
NM_001126102.2:c.734C>A (HP) NP_001119574.1:p.Ala245Asp
NM_001318138.1:c.734C>A (HP) NP_001305067.1:p.Ala245Asp
NM_005143.4:c.911C>A (HP) NP_005134.1:p.Ala304Asp
XM_017023377.2:c.285-16223G>T (TXNL4B) XP_016878866.1:n.285-16223G>T
NM_001318138.2:c.734C>A (HP) NP_001305067.1:p.Ala245Asp
NM_005143.5:c.911C>A (HP) MANE Select NP_005134.1:p.Ala304Asp
NM_001126102.3:c.734C>A (HP) NP_001119574.1:p.Ala245Asp