Canonical Allele Identifier: CA373835303
Gene: AUH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.91220953A>G , CM000671.2:g.91220953A>G GRCh38
NC_000009.11:g.93983235A>G , CM000671.1:g.93983235A>G GRCh37
NC_000009.10:g.93023056A>G NCBI36
NG_008017.1:g.145972T>C , LRG_449:g.145972T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375731.9:c.695T>C MANE Select ENSP00000364883.5:p.Leu232Pro
ENST00000303617.5:c.608T>C ENSP00000307334.5:p.Leu203Pro
ENST00000375731.8:c.695T>C ENSP00000364883.4:p.Leu232Pro
NM_001306190.1:c.608T>C NP_001293119.1:p.Leu203Pro
NM_001698.2:c.695T>C , LRG_449t1:c.695T>C NP_001689.1:p.Leu232Pro
XM_005252066.2:c.725T>C XP_005252123.1:p.Leu242Pro
XM_005252067.3:c.725T>C XP_005252124.1:p.Leu242Pro
XM_005252069.3:c.725T>C XP_005252126.1:p.Leu242Pro
XM_005252073.2:c.233T>C XP_005252130.1:p.Leu78Pro
XM_006717150.2:c.638T>C XP_006717213.1:p.Leu213Pro
XM_011518801.1:c.371T>C XP_011517103.1:p.Leu124Pro
XM_011518802.1:c.368T>C XP_011517104.1:p.Leu123Pro
NM_001351431.1:c.368T>C NP_001338360.1:p.Leu123Pro
NM_001351432.1:c.368T>C NP_001338361.1:p.Leu123Pro
NM_001351433.1:c.368T>C NP_001338362.1:p.Leu123Pro
XM_005252066.3:c.725T>C XP_005252123.1:p.Leu242Pro
XM_005252067.4:c.725T>C XP_005252124.1:p.Leu242Pro
XM_005252069.4:c.725T>C XP_005252126.1:p.Leu242Pro
XM_006717150.3:c.638T>C XP_006717213.1:p.Leu213Pro
XM_017014849.1:c.695T>C XP_016870338.1:p.Leu232Pro
XR_001746328.2:n.920T>C
XR_001746329.2:n.872T>C
NM_001698.3:c.695T>C MANE Select NP_001689.1:p.Leu232Pro
NM_001306190.2:c.608T>C NP_001293119.1:p.Leu203Pro
NM_001351431.2:c.368T>C NP_001338360.1:p.Leu123Pro
NM_001351432.2:c.368T>C NP_001338361.1:p.Leu123Pro
NM_001351433.2:c.368T>C NP_001338362.1:p.Leu123Pro