Canonical Allele Identifier: CA396678110

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72060598T>A , CM000678.2:g.72060598T>A GRCh38
NC_000016.9:g.72094497T>A , CM000678.1:g.72094497T>A GRCh37
NC_000016.8:g.70651998T>A NCBI36
NG_012651.1:g.10990T>A
NG_030311.1:g.2373T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355906.10:c.929T>A (HP) MANE Select ENSP00000348170.5:p.Ile310Lys
ENST00000228226.12:c.554T>A (HP) ENSP00000228226.9:p.Ile185Lys
ENST00000355906.9:c.929T>A (HP) ENSP00000348170.5:p.Ile310Lys
ENST00000357763.8:c.1037T>A (HP) ENSP00000350406.5:p.Ile346Lys
ENST00000398131.6:c.752T>A (HP) ENSP00000381199.2:p.Ile251Lys
ENST00000562153.5:c.285-16241A>T (TXNL4B) ENSP00000454635.1:n.285-16241A>T
ENST00000562526.5:c.266-65T>A (HP) ENSP00000454413.1:n.266-65T>A
ENST00000564499.5:c.632T>A (HP) ENSP00000456503.1:p.Ile211Lys
ENST00000565574.5:c.752T>A (HP) ENSP00000454966.1:p.Ile251Lys
ENST00000566821.1:n.2568T>A (HP)
ENST00000567185.7:c.921T>A (HP)
ENST00000567612.2:c.804T>A (HP)
ENST00000570083.5:c.752T>A (HP) ENSP00000457629.1:p.Ile251Lys
ENST00000613898.1:c.554T>A (HP) ENSP00000478279.1:p.Ile185Lys
NM_001126102.1:c.752T>A (HP) NP_001119574.1:p.Ile251Lys
NM_005143.3:c.929T>A (HP) NP_005134.1:p.Ile310Lys
XM_005255922.3:c.752T>A (HP) XP_005255979.2:p.Ile251Lys
NM_001126102.2:c.752T>A (HP) NP_001119574.1:p.Ile251Lys
NM_001318138.1:c.752T>A (HP) NP_001305067.1:p.Ile251Lys
NM_005143.4:c.929T>A (HP) NP_005134.1:p.Ile310Lys
XM_017023377.2:c.285-16241A>T (TXNL4B) XP_016878866.1:n.285-16241A>T
NM_001318138.2:c.752T>A (HP) NP_001305067.1:p.Ile251Lys
NM_005143.5:c.929T>A (HP) MANE Select NP_005134.1:p.Ile310Lys
NM_001126102.3:c.752T>A (HP) NP_001119574.1:p.Ile251Lys