Canonical Allele Identifier: CA373835078

Gene: AUH

Linked Data

• gnomAD v4: 9-91220848-G-A
• MyVariant Identifiers: chr9:g.93983130G>A (hg19) ; chr9:g.91220848G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91220848G>A , CM000671.2:g.91220848G>A	GRCh38
NC_000009.11:g.93983130G>A , CM000671.1:g.93983130G>A	GRCh37
NC_000009.10:g.93022951G>A	NCBI36
NG_008017.1:g.146077C>T , LRG_449:g.146077C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375731.9:c.800C>T MANE Select	ENSP00000364883.5:p.Ala267Val
ENST00000303617.5:c.713C>T	ENSP00000307334.5:p.Ala238Val
ENST00000375731.8:c.800C>T	ENSP00000364883.4:p.Ala267Val
ENST00000473695.1:n.72C>T
NM_001306190.1:c.713C>T	NP_001293119.1:p.Ala238Val
NM_001698.2:c.800C>T , LRG_449t1:c.800C>T	NP_001689.1:p.Ala267Val
XM_005252066.2:c.830C>T	XP_005252123.1:p.Ala277Val
XM_005252067.3:c.830C>T	XP_005252124.1:p.Ala277Val
XM_005252069.3:c.830C>T	XP_005252126.1:p.Ala277Val
XM_005252073.2:c.338C>T	XP_005252130.1:p.Ala113Val
XM_006717150.2:c.743C>T	XP_006717213.1:p.Ala248Val
XM_011518801.1:c.476C>T	XP_011517103.1:p.Ala159Val
XM_011518802.1:c.473C>T	XP_011517104.1:p.Ala158Val
NM_001351431.1:c.473C>T	NP_001338360.1:p.Ala158Val
NM_001351432.1:c.473C>T	NP_001338361.1:p.Ala158Val
NM_001351433.1:c.473C>T	NP_001338362.1:p.Ala158Val
XM_005252066.3:c.830C>T	XP_005252123.1:p.Ala277Val
XM_005252067.4:c.830C>T	XP_005252124.1:p.Ala277Val
XM_005252069.4:c.830C>T	XP_005252126.1:p.Ala277Val
XM_006717150.3:c.743C>T	XP_006717213.1:p.Ala248Val
XM_017014849.1:c.800C>T	XP_016870338.1:p.Ala267Val
XR_001746328.2:n.1025C>T
XR_001746329.2:n.977C>T
NM_001698.3:c.800C>T MANE Select	NP_001689.1:p.Ala267Val
NM_001306190.2:c.713C>T	NP_001293119.1:p.Ala238Val
NM_001351431.2:c.473C>T	NP_001338360.1:p.Ala158Val
NM_001351432.2:c.473C>T	NP_001338361.1:p.Ala158Val
NM_001351433.2:c.473C>T	NP_001338362.1:p.Ala158Val