Canonical Allele Identifier: CA373836618
Gene: AUH HGNC NCBI

Linked Data

gnomAD v4: 9-91361785-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.91361785C>G , CM000671.2:g.91361785C>G GRCh38
NC_000009.11:g.94124067C>G , CM000671.1:g.94124067C>G GRCh37
NC_000009.10:g.93163888C>G NCBI36
NG_008017.1:g.5140G>C , LRG_449:g.5140G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375731.9:c.105G>C MANE Select ENSP00000364883.5:p.Arg35Ser
ENST00000303617.5:c.105G>C ENSP00000307334.5:p.Arg35Ser
ENST00000375731.8:c.105G>C ENSP00000364883.4:p.Arg35Ser
ENST00000478465.5:n.103G>C
NM_001306190.1:c.105G>C NP_001293119.1:p.Arg35Ser
NM_001698.2:c.105G>C , LRG_449t1:c.105G>C NP_001689.1:p.Arg35Ser
XM_005252066.2:c.105G>C XP_005252123.1:p.Arg35Ser
XM_005252067.3:c.105G>C XP_005252124.1:p.Arg35Ser
XM_005252069.3:c.105G>C XP_005252126.1:p.Arg35Ser
XM_005252072.1:c.105G>C XP_005252129.1:p.Arg35Ser
XM_006717150.2:c.105G>C XP_006717213.1:p.Arg35Ser
XM_011518800.1:c.105G>C XP_011517102.1:p.Arg35Ser
XM_011518803.1:c.105G>C XP_011517105.1:p.Arg35Ser
XM_011518804.1:c.105G>C XP_011517106.1:p.Arg35Ser
XR_929814.1:n.155G>C
NM_001351431.1:c.-293G>C NP_001338360.1:n.-293G>C
NM_001351432.1:c.-385G>C NP_001338361.1:n.-385G>C
NM_001351433.1:c.-293G>C NP_001338362.1:n.-293G>C
XM_005252066.3:c.105G>C XP_005252123.1:p.Arg35Ser
XM_005252067.4:c.105G>C XP_005252124.1:p.Arg35Ser
XM_005252069.4:c.105G>C XP_005252126.1:p.Arg35Ser
XM_005252072.2:c.105G>C XP_005252129.1:p.Arg35Ser
XM_006717150.3:c.105G>C XP_006717213.1:p.Arg35Ser
XM_011518800.3:c.105G>C XP_011517102.1:p.Arg35Ser
XM_011518803.2:c.105G>C XP_011517105.1:p.Arg35Ser
XM_017014849.1:c.105G>C XP_016870338.1:p.Arg35Ser
XR_001746328.2:n.158G>C
XR_001746329.2:n.140G>C
NM_001698.3:c.105G>C MANE Select NP_001689.1:p.Arg35Ser
NM_001306190.2:c.105G>C NP_001293119.1:p.Arg35Ser
NM_001351431.2:c.-293G>C NP_001338360.1:n.-293G>C
NM_001351432.2:c.-385G>C NP_001338361.1:n.-385G>C
NM_001351433.2:c.-293G>C NP_001338362.1:n.-293G>C