Canonical Allele Identifier: CA373835330

Gene: AUH

Linked Data

• MyVariant Identifiers: chr9:g.93983247A>T (hg19) ; chr9:g.91220965A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91220965A>T , CM000671.2:g.91220965A>T	GRCh38
NC_000009.11:g.93983247A>T , CM000671.1:g.93983247A>T	GRCh37
NC_000009.10:g.93023068A>T	NCBI36
NG_008017.1:g.145960T>A , LRG_449:g.145960T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375731.9:c.683T>A MANE Select	ENSP00000364883.5:p.Ile228Asn
ENST00000303617.5:c.596T>A	ENSP00000307334.5:p.Ile199Asn
ENST00000375731.8:c.683T>A	ENSP00000364883.4:p.Ile228Asn
NM_001306190.1:c.596T>A	NP_001293119.1:p.Ile199Asn
NM_001698.2:c.683T>A , LRG_449t1:c.683T>A	NP_001689.1:p.Ile228Asn
XM_005252066.2:c.713T>A	XP_005252123.1:p.Ile238Asn
XM_005252067.3:c.713T>A	XP_005252124.1:p.Ile238Asn
XM_005252069.3:c.713T>A	XP_005252126.1:p.Ile238Asn
XM_005252073.2:c.221T>A	XP_005252130.1:p.Ile74Asn
XM_006717150.2:c.626T>A	XP_006717213.1:p.Ile209Asn
XM_011518801.1:c.359T>A	XP_011517103.1:p.Ile120Asn
XM_011518802.1:c.356T>A	XP_011517104.1:p.Ile119Asn
NM_001351431.1:c.356T>A	NP_001338360.1:p.Ile119Asn
NM_001351432.1:c.356T>A	NP_001338361.1:p.Ile119Asn
NM_001351433.1:c.356T>A	NP_001338362.1:p.Ile119Asn
XM_005252066.3:c.713T>A	XP_005252123.1:p.Ile238Asn
XM_005252067.4:c.713T>A	XP_005252124.1:p.Ile238Asn
XM_005252069.4:c.713T>A	XP_005252126.1:p.Ile238Asn
XM_006717150.3:c.626T>A	XP_006717213.1:p.Ile209Asn
XM_017014849.1:c.683T>A	XP_016870338.1:p.Ile228Asn
XR_001746328.2:n.908T>A
XR_001746329.2:n.860T>A
NM_001698.3:c.683T>A MANE Select	NP_001689.1:p.Ile228Asn
NM_001306190.2:c.596T>A	NP_001293119.1:p.Ile199Asn
NM_001351431.2:c.356T>A	NP_001338360.1:p.Ile119Asn
NM_001351432.2:c.356T>A	NP_001338361.1:p.Ile119Asn
NM_001351433.2:c.356T>A	NP_001338362.1:p.Ile119Asn