Canonical Allele Identifier: CA2231555332

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72060582G= , CM000678.2:g.72060582G= GRCh38
NC_000016.9:g.72094481G= , CM000678.1:g.72094481G= GRCh37
NC_000016.8:g.70651982G= NCBI36
NG_012651.1:g.10974G=
NG_030311.1:g.2357G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355906.10:c.913G= (HP) MANE Select ENSP00000348170.5:p.Asp305=
ENST00000228226.12:c.538G= (HP) ENSP00000228226.9:p.Asp180=
ENST00000355906.9:c.913G= (HP) ENSP00000348170.5:p.Asp305=
ENST00000357763.8:c.1021G= (HP) ENSP00000350406.5:p.Asp341=
ENST00000398131.6:c.736G= (HP) ENSP00000381199.2:p.Asp246=
ENST00000562153.5:c.285-16225C= (TXNL4B) ENSP00000454635.1:n.285-16225C=
ENST00000562526.5:c.266-81G= (HP) ENSP00000454413.1:n.266-81G=
ENST00000564499.5:c.616G= (HP) ENSP00000456503.1:p.Asp206=
ENST00000565574.5:c.736G= (HP) ENSP00000454966.1:p.Asp246=
ENST00000566821.1:n.2552G= (HP)
ENST00000567185.7:c.905G= (HP)
ENST00000567612.2:c.788G= (HP)
ENST00000570083.5:c.736G= (HP) ENSP00000457629.1:p.Asp246=
ENST00000613898.1:c.538G= (HP) ENSP00000478279.1:p.Asp180=
NM_001126102.1:c.736G= (HP) NP_001119574.1:p.Asp246=
NM_005143.3:c.913G= (HP) NP_005134.1:p.Asp305=
XM_005255922.3:c.736G= (HP) XP_005255979.2:p.Asp246=
NM_001126102.2:c.736G= (HP) NP_001119574.1:p.Asp246=
NM_001318138.1:c.736G= (HP) NP_001305067.1:p.Asp246=
NM_005143.4:c.913G= (HP) NP_005134.1:p.Asp305=
XM_017023377.2:c.285-16225C= (TXNL4B) XP_016878866.1:n.285-16225C=
NM_001318138.2:c.736G= (HP) NP_001305067.1:p.Asp246=
NM_005143.5:c.913G= (HP) MANE Select NP_005134.1:p.Asp305=
NM_001126102.3:c.736G= (HP) NP_001119574.1:p.Asp246=