Canonical Allele Identifier: CA373835027
Gene: AUH HGNC NCBI

Linked Data

dbSNP Id: rs1827088715
gnomAD v3: 9-91220822-T-C
gnomAD v4: 9-91220822-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.91220822T>C , CM000671.2:g.91220822T>C GRCh38
NC_000009.11:g.93983104T>C , CM000671.1:g.93983104T>C GRCh37
NC_000009.10:g.93022925T>C NCBI36
NG_008017.1:g.146103A>G , LRG_449:g.146103A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375731.9:c.826A>G MANE Select ENSP00000364883.5:p.Arg276Gly
ENST00000303617.5:c.739A>G ENSP00000307334.5:p.Arg247Gly
ENST00000375731.8:c.826A>G ENSP00000364883.4:p.Arg276Gly
ENST00000473695.1:n.98A>G
NM_001306190.1:c.739A>G NP_001293119.1:p.Arg247Gly
NM_001698.2:c.826A>G , LRG_449t1:c.826A>G NP_001689.1:p.Arg276Gly
XM_005252066.2:c.856A>G XP_005252123.1:p.Arg286Gly
XM_005252067.3:c.856A>G XP_005252124.1:p.Arg286Gly
XM_005252069.3:c.856A>G XP_005252126.1:p.Arg286Gly
XM_005252073.2:c.364A>G XP_005252130.1:p.Arg122Gly
XM_006717150.2:c.769A>G XP_006717213.1:p.Arg257Gly
XM_011518801.1:c.502A>G XP_011517103.1:p.Arg168Gly
XM_011518802.1:c.499A>G XP_011517104.1:p.Arg167Gly
NM_001351431.1:c.499A>G NP_001338360.1:p.Arg167Gly
NM_001351432.1:c.499A>G NP_001338361.1:p.Arg167Gly
NM_001351433.1:c.499A>G NP_001338362.1:p.Arg167Gly
XM_005252066.3:c.856A>G XP_005252123.1:p.Arg286Gly
XM_005252067.4:c.856A>G XP_005252124.1:p.Arg286Gly
XM_005252069.4:c.856A>G XP_005252126.1:p.Arg286Gly
XM_006717150.3:c.769A>G XP_006717213.1:p.Arg257Gly
XM_017014849.1:c.826A>G XP_016870338.1:p.Arg276Gly
XR_001746328.2:n.1051A>G
XR_001746329.2:n.1003A>G
NM_001698.3:c.826A>G MANE Select NP_001689.1:p.Arg276Gly
NM_001306190.2:c.739A>G NP_001293119.1:p.Arg247Gly
NM_001351431.2:c.499A>G NP_001338360.1:p.Arg167Gly
NM_001351432.2:c.499A>G NP_001338361.1:p.Arg167Gly
NM_001351433.2:c.499A>G NP_001338362.1:p.Arg167Gly