Canonical Allele Identifier: CA373835355

Gene: AUH

Linked Data

• gnomAD v4: 9-91220980-C-A
• MyVariant Identifiers: chr9:g.93983262C>A (hg19) ; chr9:g.91220980C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91220980C>A , CM000671.2:g.91220980C>A	GRCh38
NC_000009.11:g.93983262C>A , CM000671.1:g.93983262C>A	GRCh37
NC_000009.10:g.93023083C>A	NCBI36
NG_008017.1:g.145945G>T , LRG_449:g.145945G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375731.9:c.668G>T MANE Select	ENSP00000364883.5:p.Arg223Leu
ENST00000303617.5:c.581G>T	ENSP00000307334.5:p.Arg194Leu
ENST00000375731.8:c.668G>T	ENSP00000364883.4:p.Arg223Leu
NM_001306190.1:c.581G>T	NP_001293119.1:p.Arg194Leu
NM_001698.2:c.668G>T , LRG_449t1:c.668G>T	NP_001689.1:p.Arg223Leu
XM_005252066.2:c.698G>T	XP_005252123.1:p.Arg233Leu
XM_005252067.3:c.698G>T	XP_005252124.1:p.Arg233Leu
XM_005252069.3:c.698G>T	XP_005252126.1:p.Arg233Leu
XM_005252073.2:c.206G>T	XP_005252130.1:p.Arg69Leu
XM_006717150.2:c.611G>T	XP_006717213.1:p.Arg204Leu
XM_011518801.1:c.344G>T	XP_011517103.1:p.Arg115Leu
XM_011518802.1:c.341G>T	XP_011517104.1:p.Arg114Leu
NM_001351431.1:c.341G>T	NP_001338360.1:p.Arg114Leu
NM_001351432.1:c.341G>T	NP_001338361.1:p.Arg114Leu
NM_001351433.1:c.341G>T	NP_001338362.1:p.Arg114Leu
XM_005252066.3:c.698G>T	XP_005252123.1:p.Arg233Leu
XM_005252067.4:c.698G>T	XP_005252124.1:p.Arg233Leu
XM_005252069.4:c.698G>T	XP_005252126.1:p.Arg233Leu
XM_006717150.3:c.611G>T	XP_006717213.1:p.Arg204Leu
XM_017014849.1:c.668G>T	XP_016870338.1:p.Arg223Leu
XR_001746328.2:n.893G>T
XR_001746329.2:n.845G>T
NM_001698.3:c.668G>T MANE Select	NP_001689.1:p.Arg223Leu
NM_001306190.2:c.581G>T	NP_001293119.1:p.Arg194Leu
NM_001351431.2:c.341G>T	NP_001338360.1:p.Arg114Leu
NM_001351432.2:c.341G>T	NP_001338361.1:p.Arg114Leu
NM_001351433.2:c.341G>T	NP_001338362.1:p.Arg114Leu