Canonical Allele Identifier: CA373835285

Gene: AUH

Linked Data

• dbSNP Id: rs1294255949
• gnomAD v2: 9-93983227-C-T
• gnomAD v4: 9-91220945-C-T
• MyVariant Identifiers: chr9:g.93983227C>T (hg19) ; chr9:g.91220945C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91220945C>T , CM000671.2:g.91220945C>T	GRCh38
NC_000009.11:g.93983227C>T , CM000671.1:g.93983227C>T	GRCh37
NC_000009.10:g.93023048C>T	NCBI36
NG_008017.1:g.145980G>A , LRG_449:g.145980G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375731.9:c.703G>A MANE Select	ENSP00000364883.5:p.Glu235Lys
ENST00000303617.5:c.616G>A	ENSP00000307334.5:p.Glu206Lys
ENST00000375731.8:c.703G>A	ENSP00000364883.4:p.Glu235Lys
NM_001306190.1:c.616G>A	NP_001293119.1:p.Glu206Lys
NM_001698.2:c.703G>A , LRG_449t1:c.703G>A	NP_001689.1:p.Glu235Lys
XM_005252066.2:c.733G>A	XP_005252123.1:p.Glu245Lys
XM_005252067.3:c.733G>A	XP_005252124.1:p.Glu245Lys
XM_005252069.3:c.733G>A	XP_005252126.1:p.Glu245Lys
XM_005252073.2:c.241G>A	XP_005252130.1:p.Glu81Lys
XM_006717150.2:c.646G>A	XP_006717213.1:p.Glu216Lys
XM_011518801.1:c.379G>A	XP_011517103.1:p.Glu127Lys
XM_011518802.1:c.376G>A	XP_011517104.1:p.Glu126Lys
NM_001351431.1:c.376G>A	NP_001338360.1:p.Glu126Lys
NM_001351432.1:c.376G>A	NP_001338361.1:p.Glu126Lys
NM_001351433.1:c.376G>A	NP_001338362.1:p.Glu126Lys
XM_005252066.3:c.733G>A	XP_005252123.1:p.Glu245Lys
XM_005252067.4:c.733G>A	XP_005252124.1:p.Glu245Lys
XM_005252069.4:c.733G>A	XP_005252126.1:p.Glu245Lys
XM_006717150.3:c.646G>A	XP_006717213.1:p.Glu216Lys
XM_017014849.1:c.703G>A	XP_016870338.1:p.Glu235Lys
XR_001746328.2:n.928G>A
XR_001746329.2:n.880G>A
NM_001698.3:c.703G>A MANE Select	NP_001689.1:p.Glu235Lys
NM_001306190.2:c.616G>A	NP_001293119.1:p.Glu206Lys
NM_001351431.2:c.376G>A	NP_001338360.1:p.Glu126Lys
NM_001351432.2:c.376G>A	NP_001338361.1:p.Glu126Lys
NM_001351433.2:c.376G>A	NP_001338362.1:p.Glu126Lys