Canonical Allele Identifier: CA373835215
Gene: AUH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.91220910T>G , CM000671.2:g.91220910T>G GRCh38
NC_000009.11:g.93983192T>G , CM000671.1:g.93983192T>G GRCh37
NC_000009.10:g.93023013T>G NCBI36
NG_008017.1:g.146015A>C , LRG_449:g.146015A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375731.9:c.738A>C MANE Select ENSP00000364883.5:p.Lys246Asn
ENST00000303617.5:c.651A>C ENSP00000307334.5:p.Lys217Asn
ENST00000375731.8:c.738A>C ENSP00000364883.4:p.Lys246Asn
ENST00000473695.1:n.10A>C
NM_001306190.1:c.651A>C NP_001293119.1:p.Lys217Asn
NM_001698.2:c.738A>C , LRG_449t1:c.738A>C NP_001689.1:p.Lys246Asn
XM_005252066.2:c.768A>C XP_005252123.1:p.Lys256Asn
XM_005252067.3:c.768A>C XP_005252124.1:p.Lys256Asn
XM_005252069.3:c.768A>C XP_005252126.1:p.Lys256Asn
XM_005252073.2:c.276A>C XP_005252130.1:p.Lys92Asn
XM_006717150.2:c.681A>C XP_006717213.1:p.Lys227Asn
XM_011518801.1:c.414A>C XP_011517103.1:p.Lys138Asn
XM_011518802.1:c.411A>C XP_011517104.1:p.Lys137Asn
NM_001351431.1:c.411A>C NP_001338360.1:p.Lys137Asn
NM_001351432.1:c.411A>C NP_001338361.1:p.Lys137Asn
NM_001351433.1:c.411A>C NP_001338362.1:p.Lys137Asn
XM_005252066.3:c.768A>C XP_005252123.1:p.Lys256Asn
XM_005252067.4:c.768A>C XP_005252124.1:p.Lys256Asn
XM_005252069.4:c.768A>C XP_005252126.1:p.Lys256Asn
XM_006717150.3:c.681A>C XP_006717213.1:p.Lys227Asn
XM_017014849.1:c.738A>C XP_016870338.1:p.Lys246Asn
XR_001746328.2:n.963A>C
XR_001746329.2:n.915A>C
NM_001698.3:c.738A>C MANE Select NP_001689.1:p.Lys246Asn
NM_001306190.2:c.651A>C NP_001293119.1:p.Lys217Asn
NM_001351431.2:c.411A>C NP_001338360.1:p.Lys137Asn
NM_001351432.2:c.411A>C NP_001338361.1:p.Lys137Asn
NM_001351433.2:c.411A>C NP_001338362.1:p.Lys137Asn