Canonical Allele Identifier: CA373836868

Gene: AUH

Linked Data

• gnomAD v4: 9-91298001-C-T
• MyVariant Identifiers: chr9:g.94060283C>T (hg19) ; chr9:g.91298001C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91298001C>T , CM000671.2:g.91298001C>T	GRCh38
NC_000009.11:g.94060283C>T , CM000671.1:g.94060283C>T	GRCh37
NC_000009.10:g.93100104C>T	NCBI36
NG_008017.1:g.68924G>A , LRG_449:g.68924G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000375731.9:c.581G>A MANE Select	ENSP00000364883.5:p.Cys194Tyr
ENST00000303617.5:c.494G>A	ENSP00000307334.5:p.Cys165Tyr
ENST00000375731.8:c.581G>A	ENSP00000364883.4:p.Cys194Tyr
ENST00000478465.5:n.741G>A
NM_001306190.1:c.494G>A	NP_001293119.1:p.Cys165Tyr
NM_001698.2:c.581G>A , LRG_449t1:c.581G>A	NP_001689.1:p.Cys194Tyr
XM_005252066.2:c.611G>A	XP_005252123.1:p.Cys204Tyr
XM_005252067.3:c.611G>A	XP_005252124.1:p.Cys204Tyr
XM_005252069.3:c.611G>A	XP_005252126.1:p.Cys204Tyr
XM_005252072.1:c.581G>A	XP_005252129.1:p.Cys194Tyr
XM_005252073.2:c.119G>A	XP_005252130.1:p.Cys40Tyr
XM_006717150.2:c.524G>A	XP_006717213.1:p.Cys175Tyr
XM_011518800.1:c.611G>A	XP_011517102.1:p.Cys204Tyr
XM_011518801.1:c.257G>A	XP_011517103.1:p.Cys86Tyr
XM_011518802.1:c.254G>A	XP_011517104.1:p.Cys85Tyr
NM_001351431.1:c.254G>A	NP_001338360.1:p.Cys85Tyr
NM_001351432.1:c.254G>A	NP_001338361.1:p.Cys85Tyr
NM_001351433.1:c.254G>A	NP_001338362.1:p.Cys85Tyr
XM_005252066.3:c.611G>A	XP_005252123.1:p.Cys204Tyr
XM_005252067.4:c.611G>A	XP_005252124.1:p.Cys204Tyr
XM_005252069.4:c.611G>A	XP_005252126.1:p.Cys204Tyr
XM_005252072.2:c.581G>A	XP_005252129.1:p.Cys194Tyr
XM_006717150.3:c.524G>A	XP_006717213.1:p.Cys175Tyr
XM_011518800.3:c.611G>A	XP_011517102.1:p.Cys204Tyr
XM_017014849.1:c.581G>A	XP_016870338.1:p.Cys194Tyr
XR_001746328.2:n.664G>A
XR_001746329.2:n.616G>A
NM_001698.3:c.581G>A MANE Select	NP_001689.1:p.Cys194Tyr
NM_001306190.2:c.494G>A	NP_001293119.1:p.Cys165Tyr
NM_001351431.2:c.254G>A	NP_001338360.1:p.Cys85Tyr
NM_001351432.2:c.254G>A	NP_001338361.1:p.Cys85Tyr
NM_001351433.2:c.254G>A	NP_001338362.1:p.Cys85Tyr