Canonical Allele Identifier: CA2231552792

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72055065C>A , CM000678.2:g.72055065C>A GRCh38
NC_000016.9:g.72088964C>A , CM000678.1:g.72088964C>A GRCh37
NC_000016.8:g.70646465C>A NCBI36
NG_012651.1:g.5457C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355906.10:c.5+408C>A (HP) MANE Select ENSP00000348170.5:n.5+408C>A
ENST00000228226.12:c.-66+408C>A (HP) ENSP00000228226.9:n.-66+408C>A
ENST00000355906.9:c.5+408C>A (HP) ENSP00000348170.5:n.5+408C>A
ENST00000357763.8:c.5+408C>A (HP) ENSP00000350406.5:n.5+408C>A
ENST00000398131.6:c.5+408C>A (HP) ENSP00000381199.2:n.5+408C>A
ENST00000562153.5:c.285-10708G>T (TXNL4B) ENSP00000454635.1:n.285-10708G>T
ENST00000562488.5:n.35+408C>A (HP)
ENST00000562526.5:c.5+408C>A (HP) ENSP00000454413.1:n.5+408C>A
ENST00000564499.5:c.5+408C>A (HP) ENSP00000456503.1:n.5+408C>A
ENST00000565574.5:c.5+408C>A (HP) ENSP00000454966.1:n.5+408C>A
ENST00000565807.6:n.35+408C>A (HP)
ENST00000566821.1:n.440C>A (HP)
ENST00000568417.6:c.5+408C>A (HP) ENSP00000462662.1:n.5+408C>A
ENST00000569639.5:c.5+408C>A (HP) ENSP00000463755.1:n.5+408C>A
ENST00000570083.5:c.5+408C>A (HP) ENSP00000457629.1:n.5+408C>A
ENST00000613898.1:c.-66+408C>A (HP) ENSP00000478279.1:n.-66+408C>A
NM_001126102.1:c.5+408C>A (HP) NP_001119574.1:n.5+408C>A
NM_005143.3:c.5+408C>A (HP) NP_005134.1:n.5+408C>A
XM_005255922.3:c.5+408C>A (HP) XP_005255979.2:n.5+408C>A
NM_001126102.2:c.5+408C>A (HP) NP_001119574.1:n.5+408C>A
NM_001318138.1:c.5+408C>A (HP) NP_001305067.1:n.5+408C>A
NM_005143.4:c.5+408C>A (HP) NP_005134.1:n.5+408C>A
XM_017023377.2:c.285-10708G>T (TXNL4B) XP_016878866.1:n.285-10708G>T
NM_001318138.2:c.5+408C>A (HP) NP_001305067.1:n.5+408C>A
NM_005143.5:c.5+408C>A (HP) MANE Select NP_005134.1:n.5+408C>A
NM_001126102.3:c.5+408C>A (HP) NP_001119574.1:n.5+408C>A