Canonical Allele Identifier: CA373835892
Community Standard Title: NM_001698.3(AUH):c.385A>G (p.Ile129Val)
Gene: AUH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.91355916T>C , CM000671.2:g.91355916T>C GRCh38
NC_000009.11:g.94118198T>C , CM000671.1:g.94118198T>C GRCh37
NC_000009.10:g.93158019T>C NCBI36
NG_008017.1:g.11009A>G , LRG_449:g.11009A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001698.3:c.385A>G MANE Select NP_001689.1:p.Ile129Val
ENST00000375731.9:c.385A>G MANE Select ENSP00000364883.5:p.Ile129Val
NM_001306190.1:c.385A>G NP_001293119.1:p.Ile129Val
NM_001306190.2:c.385A>G NP_001293119.1:p.Ile129Val
NM_001351431.1:c.58A>G NP_001338360.1:p.Ile20Val
NM_001351431.2:c.58A>G NP_001338360.1:p.Ile20Val
NM_001351432.1:c.58A>G NP_001338361.1:p.Ile20Val
NM_001351432.2:c.58A>G NP_001338361.1:p.Ile20Val
NM_001351433.1:c.58A>G NP_001338362.1:p.Ile20Val
NM_001351433.2:c.58A>G NP_001338362.1:p.Ile20Val
NM_001698.2:c.385A>G , LRG_449t1:c.385A>G NP_001689.1:p.Ile129Val
ENST00000303617.5:c.385A>G ENSP00000307334.5:p.Ile129Val
ENST00000375731.8:c.385A>G ENSP00000364883.4:p.Ile129Val
ENST00000475023.1:n.89A>G
ENST00000478465.5:n.545A>G
XM_005252066.2:c.415A>G XP_005252123.1:p.Ile139Val
XM_005252066.3:c.415A>G XP_005252123.1:p.Ile139Val
XM_005252067.3:c.415A>G XP_005252124.1:p.Ile139Val
XM_005252067.4:c.415A>G XP_005252124.1:p.Ile139Val
XM_005252069.3:c.415A>G XP_005252126.1:p.Ile139Val
XM_005252069.4:c.415A>G XP_005252126.1:p.Ile139Val
XM_005252072.1:c.385A>G XP_005252129.1:p.Ile129Val
XM_005252072.2:c.385A>G XP_005252129.1:p.Ile129Val
XM_006717150.2:c.415A>G XP_006717213.1:p.Ile139Val
XM_006717150.3:c.415A>G XP_006717213.1:p.Ile139Val
XM_011518800.1:c.415A>G XP_011517102.1:p.Ile139Val
XM_011518800.3:c.415A>G XP_011517102.1:p.Ile139Val
XM_011518802.1:c.58A>G XP_011517104.1:p.Ile20Val
XM_011518803.1:c.415A>G XP_011517105.1:p.Ile139Val
XM_011518803.2:c.415A>G XP_011517105.1:p.Ile139Val
XM_011518804.1:c.385A>G XP_011517106.1:p.Ile129Val
XM_017014849.1:c.385A>G XP_016870338.1:p.Ile129Val
XR_001746328.2:n.468A>G
XR_001746329.2:n.420A>G
XR_929814.1:n.465A>G