Canonical Allele Identifier: CA396678050

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72060574C>A , CM000678.2:g.72060574C>A GRCh38
NC_000016.9:g.72094473C>A , CM000678.1:g.72094473C>A GRCh37
NC_000016.8:g.70651974C>A NCBI36
NG_012651.1:g.10966C>A
NG_030311.1:g.2349C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355906.10:c.905C>A (HP) MANE Select ENSP00000348170.5:p.Pro302His
ENST00000228226.12:c.530C>A (HP) ENSP00000228226.9:p.Pro177His
ENST00000355906.9:c.905C>A (HP) ENSP00000348170.5:p.Pro302His
ENST00000357763.8:c.1013C>A (HP) ENSP00000350406.5:p.Pro338His
ENST00000398131.6:c.728C>A (HP) ENSP00000381199.2:p.Pro243His
ENST00000562153.5:c.285-16217G>T (TXNL4B) ENSP00000454635.1:n.285-16217G>T
ENST00000562526.5:c.266-89C>A (HP) ENSP00000454413.1:n.266-89C>A
ENST00000564499.5:c.608C>A (HP) ENSP00000456503.1:p.Pro203His
ENST00000565574.5:c.728C>A (HP) ENSP00000454966.1:p.Pro243His
ENST00000566821.1:n.2544C>A (HP)
ENST00000567185.7:c.897C>A (HP)
ENST00000567612.2:c.780C>A (HP)
ENST00000570083.5:c.728C>A (HP) ENSP00000457629.1:p.Pro243His
ENST00000613898.1:c.530C>A (HP) ENSP00000478279.1:p.Pro177His
NM_001126102.1:c.728C>A (HP) NP_001119574.1:p.Pro243His
NM_005143.3:c.905C>A (HP) NP_005134.1:p.Pro302His
XM_005255922.3:c.728C>A (HP) XP_005255979.2:p.Pro243His
NM_001126102.2:c.728C>A (HP) NP_001119574.1:p.Pro243His
NM_001318138.1:c.728C>A (HP) NP_001305067.1:p.Pro243His
NM_005143.4:c.905C>A (HP) NP_005134.1:p.Pro302His
XM_017023377.2:c.285-16217G>T (TXNL4B) XP_016878866.1:n.285-16217G>T
NM_001318138.2:c.728C>A (HP) NP_001305067.1:p.Pro243His
NM_005143.5:c.905C>A (HP) MANE Select NP_005134.1:p.Pro302His
NM_001126102.3:c.728C>A (HP) NP_001119574.1:p.Pro243His