Canonical Allele Identifier: CA2690635629

Gene: AUH

Linked Data

• gnomAD v4: 9-91220984-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91220985dup , CM000671.2:g.91220985dup	GRCh38
NC_000009.11:g.93983267dup , CM000671.1:g.93983267dup	GRCh37
NC_000009.10:g.93023088dup	NCBI36
NG_008017.1:g.145940dup , LRG_449:g.145940dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375731.9:c.663dup MANE Select	ENSP00000364883.5:p.Gln222ThrfsTer?
ENST00000303617.5:c.576dup	ENSP00000307334.5:p.Gln193ThrfsTer?
ENST00000375731.8:c.663dup	ENSP00000364883.4:p.Gln222ThrfsTer?
NM_001306190.1:c.576dup	NP_001293119.1:p.Gln193ThrfsTer?
NM_001698.2:c.663dup , LRG_449t1:c.663dup	NP_001689.1:p.Gln222ThrfsTer?
XM_005252066.2:c.693dup	XP_005252123.1:p.Gln232ThrfsTer?
XM_005252067.3:c.693dup	XP_005252124.1:p.Gln232ThrfsTer?
XM_005252069.3:c.693dup	XP_005252126.1:p.Gln232ThrfsTer?
XM_005252073.2:c.201dup	XP_005252130.1:p.Gln68ThrfsTer?
XM_006717150.2:c.606dup	XP_006717213.1:p.Gln203ThrfsTer?
XM_011518801.1:c.339dup	XP_011517103.1:p.Gln114ThrfsTer?
XM_011518802.1:c.336dup	XP_011517104.1:p.Gln113ThrfsTer?
NM_001351431.1:c.336dup	NP_001338360.1:p.Gln113ThrfsTer?
NM_001351432.1:c.336dup	NP_001338361.1:p.Gln113ThrfsTer?
NM_001351433.1:c.336dup	NP_001338362.1:p.Gln113ThrfsTer?
XM_005252066.3:c.693dup	XP_005252123.1:p.Gln232ThrfsTer?
XM_005252067.4:c.693dup	XP_005252124.1:p.Gln232ThrfsTer?
XM_005252069.4:c.693dup	XP_005252126.1:p.Gln232ThrfsTer?
XM_006717150.3:c.606dup	XP_006717213.1:p.Gln203ThrfsTer?
XM_017014849.1:c.663dup	XP_016870338.1:p.Gln222ThrfsTer?
XR_001746328.2:n.888dup
XR_001746329.2:n.840dup
NM_001698.3:c.663dup MANE Select	NP_001689.1:p.Gln222ThrfsTer?
NM_001306190.2:c.576dup	NP_001293119.1:p.Gln193ThrfsTer?
NM_001351431.2:c.336dup	NP_001338360.1:p.Gln113ThrfsTer?
NM_001351432.2:c.336dup	NP_001338361.1:p.Gln113ThrfsTer?
NM_001351433.2:c.336dup	NP_001338362.1:p.Gln113ThrfsTer?