Canonical Allele Identifier: CA126027

Linked Data

ClinVar Variation Id: 15898
ClinVar RCV Id: RCV000017244
dbSNP Id: rs137853233

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72057415A>G , CM000678.2:g.72057415A>G GRCh38
NC_000016.9:g.72091314A>G , CM000678.1:g.72091314A>G GRCh37
NC_000016.8:g.70648815A>G NCBI36
NG_012651.1:g.7807A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355906.10:c.214A>G (HP) MANE Select ENSP00000348170.5:p.Lys72Glu
ENST00000228226.12:c.19-839A>G (HP) ENSP00000228226.9:n.19-839A>G
ENST00000355906.9:c.214A>G (HP) ENSP00000348170.5:p.Lys72Glu
ENST00000357763.8:c.214A>G (HP) ENSP00000350406.5:p.Lys72Glu
ENST00000398131.6:c.190+784A>G (HP) ENSP00000381199.2:n.190+784A>G
ENST00000561927.3:n.209A>G (HP)
ENST00000562153.5:c.285-13058T>C (TXNL4B) ENSP00000454635.1:n.285-13058T>C
ENST00000562488.5:n.244A>G (HP)
ENST00000562526.5:c.89-839A>G (HP) ENSP00000454413.1:n.89-839A>G
ENST00000564499.5:c.89-839A>G (HP) ENSP00000456503.1:n.89-839A>G
ENST00000565574.5:c.214A>G (HP) ENSP00000454966.1:p.Lys72Glu
ENST00000566821.1:n.2006+784A>G (HP)
ENST00000567185.7:c.209A>G (HP)
ENST00000567612.2:c.209A>G (HP)
ENST00000568417.6:c.89-839A>G (HP) ENSP00000462662.1:n.89-839A>G
ENST00000569639.5:c.89-839A>G (HP) ENSP00000463755.1:n.89-839A>G
ENST00000570083.5:c.89-839A>G (HP) ENSP00000457629.1:n.89-839A>G
ENST00000576168.6:c.209A>G (HP)
ENST00000613898.1:c.94+810A>G (HP) ENSP00000478279.1:n.94+810A>G
NM_001126102.1:c.190+784A>G (HP) NP_001119574.1:n.190+784A>G
NM_005143.3:c.214A>G (HP) NP_005134.1:p.Lys72Glu
XM_005255922.3:c.214A>G (HP) XP_005255979.2:p.Lys72Glu
NM_001126102.2:c.190+784A>G (HP) NP_001119574.1:n.190+784A>G
NM_001318138.1:c.214A>G (HP) NP_001305067.1:p.Lys72Glu
NM_005143.4:c.214A>G (HP) NP_005134.1:p.Lys72Glu
XM_017023377.2:c.285-13058T>C (TXNL4B) XP_016878866.1:n.285-13058T>C
NM_001318138.2:c.214A>G (HP) NP_001305067.1:p.Lys72Glu
NM_005143.5:c.214A>G (HP) MANE Select NP_005134.1:p.Lys72Glu
NM_001126102.3:c.190+784A>G (HP) NP_001119574.1:n.190+784A>G