Canonical Allele Identifier: CA373835351
Gene: AUH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.91220977A>G , CM000671.2:g.91220977A>G GRCh38
NC_000009.11:g.93983259A>G , CM000671.1:g.93983259A>G GRCh37
NC_000009.10:g.93023080A>G NCBI36
NG_008017.1:g.145948T>C , LRG_449:g.145948T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375731.9:c.671T>C MANE Select ENSP00000364883.5:p.Leu224Ser
ENST00000303617.5:c.584T>C ENSP00000307334.5:p.Leu195Ser
ENST00000375731.8:c.671T>C ENSP00000364883.4:p.Leu224Ser
NM_001306190.1:c.584T>C NP_001293119.1:p.Leu195Ser
NM_001698.2:c.671T>C , LRG_449t1:c.671T>C NP_001689.1:p.Leu224Ser
XM_005252066.2:c.701T>C XP_005252123.1:p.Leu234Ser
XM_005252067.3:c.701T>C XP_005252124.1:p.Leu234Ser
XM_005252069.3:c.701T>C XP_005252126.1:p.Leu234Ser
XM_005252073.2:c.209T>C XP_005252130.1:p.Leu70Ser
XM_006717150.2:c.614T>C XP_006717213.1:p.Leu205Ser
XM_011518801.1:c.347T>C XP_011517103.1:p.Leu116Ser
XM_011518802.1:c.344T>C XP_011517104.1:p.Leu115Ser
NM_001351431.1:c.344T>C NP_001338360.1:p.Leu115Ser
NM_001351432.1:c.344T>C NP_001338361.1:p.Leu115Ser
NM_001351433.1:c.344T>C NP_001338362.1:p.Leu115Ser
XM_005252066.3:c.701T>C XP_005252123.1:p.Leu234Ser
XM_005252067.4:c.701T>C XP_005252124.1:p.Leu234Ser
XM_005252069.4:c.701T>C XP_005252126.1:p.Leu234Ser
XM_006717150.3:c.614T>C XP_006717213.1:p.Leu205Ser
XM_017014849.1:c.671T>C XP_016870338.1:p.Leu224Ser
XR_001746328.2:n.896T>C
XR_001746329.2:n.848T>C
NM_001698.3:c.671T>C MANE Select NP_001689.1:p.Leu224Ser
NM_001306190.2:c.584T>C NP_001293119.1:p.Leu195Ser
NM_001351431.2:c.344T>C NP_001338360.1:p.Leu115Ser
NM_001351432.2:c.344T>C NP_001338361.1:p.Leu115Ser
NM_001351433.2:c.344T>C NP_001338362.1:p.Leu115Ser