Canonical Allele Identifier: CA2231555147

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72060199C= , CM000678.2:g.72060199C= GRCh38
NC_000016.9:g.72094098C= , CM000678.1:g.72094098C= GRCh37
NC_000016.8:g.70651599C= NCBI36
NG_012651.1:g.10591C=
NG_030311.1:g.1974C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355906.10:c.530C= (HP) MANE Select ENSP00000348170.5:p.Ala177=
ENST00000228226.12:c.155C= (HP) ENSP00000228226.9:p.Ala52=
ENST00000355906.9:c.530C= (HP) ENSP00000348170.5:p.Ala177=
ENST00000357763.8:c.638C= (HP) ENSP00000350406.5:p.Ala213=
ENST00000398131.6:c.353C= (HP) ENSP00000381199.2:p.Ala118=
ENST00000562153.5:c.285-15842G= (TXNL4B) ENSP00000454635.1:n.285-15842G=
ENST00000562526.5:c.266-464C= (HP) ENSP00000454413.1:n.266-464C=
ENST00000564499.5:c.266-33C= (HP) ENSP00000456503.1:n.266-33C=
ENST00000565574.5:c.353C= (HP) ENSP00000454966.1:p.Ala118=
ENST00000566821.1:n.2169C= (HP)
ENST00000567185.7:c.522C= (HP)
ENST00000567612.2:c.438-33C= (HP)
ENST00000570083.5:c.353C= (HP) ENSP00000457629.1:p.Ala118=
ENST00000613898.1:c.155C= (HP) ENSP00000478279.1:p.Ala52=
NM_001126102.1:c.353C= (HP) NP_001119574.1:p.Ala118=
NM_005143.3:c.530C= (HP) NP_005134.1:p.Ala177=
XM_005255922.3:c.353C= (HP) XP_005255979.2:p.Ala118=
NM_001126102.2:c.353C= (HP) NP_001119574.1:p.Ala118=
NM_001318138.1:c.353C= (HP) NP_001305067.1:p.Ala118=
NM_005143.4:c.530C= (HP) NP_005134.1:p.Ala177=
XM_017023377.2:c.285-15842G= (TXNL4B) XP_016878866.1:n.285-15842G=
NM_001318138.2:c.353C= (HP) NP_001305067.1:p.Ala118=
NM_005143.5:c.530C= (HP) MANE Select NP_005134.1:p.Ala177=
NM_001126102.3:c.353C= (HP) NP_001119574.1:p.Ala118=