Canonical Allele Identifier: CA320067

Gene: AUH

Linked Data

• ClinVar Variation Id: 214146
• ClinVar RCV Id: RCV000195704 ; RCV000766066 ; RCV002517196
• dbSNP Id: rs202182817
• ExAC: 9:93983200 C / T
• gnomAD v2: 9-93983200-C-T
• gnomAD v3: 9-91220918-C-T
• gnomAD v4: 9-91220918-C-T
• COSMIC: COSM3908805
• MyVariant Identifiers: chr9:g.93983200C>T (hg19) ; chr9:g.91220918C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91220918C>T , CM000671.2:g.91220918C>T	GRCh38
NC_000009.11:g.93983200C>T , CM000671.1:g.93983200C>T	GRCh37
NC_000009.10:g.93023021C>T	NCBI36
NG_008017.1:g.146007G>A , LRG_449:g.146007G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000375731.9:c.730G>A MANE Select	ENSP00000364883.5:p.Asp244Asn
ENST00000303617.5:c.643G>A	ENSP00000307334.5:p.Asp215Asn
ENST00000375731.8:c.730G>A	ENSP00000364883.4:p.Asp244Asn
ENST00000473695.1:n.2G>A
NM_001306190.1:c.643G>A	NP_001293119.1:p.Asp215Asn
NM_001698.2:c.730G>A , LRG_449t1:c.730G>A	NP_001689.1:p.Asp244Asn
XM_005252066.2:c.760G>A	XP_005252123.1:p.Asp254Asn
XM_005252067.3:c.760G>A	XP_005252124.1:p.Asp254Asn
XM_005252069.3:c.760G>A	XP_005252126.1:p.Asp254Asn
XM_005252073.2:c.268G>A	XP_005252130.1:p.Asp90Asn
XM_006717150.2:c.673G>A	XP_006717213.1:p.Asp225Asn
XM_011518801.1:c.406G>A	XP_011517103.1:p.Asp136Asn
XM_011518802.1:c.403G>A	XP_011517104.1:p.Asp135Asn
NM_001351431.1:c.403G>A	NP_001338360.1:p.Asp135Asn
NM_001351432.1:c.403G>A	NP_001338361.1:p.Asp135Asn
NM_001351433.1:c.403G>A	NP_001338362.1:p.Asp135Asn
XM_005252066.3:c.760G>A	XP_005252123.1:p.Asp254Asn
XM_005252067.4:c.760G>A	XP_005252124.1:p.Asp254Asn
XM_005252069.4:c.760G>A	XP_005252126.1:p.Asp254Asn
XM_006717150.3:c.673G>A	XP_006717213.1:p.Asp225Asn
XM_017014849.1:c.730G>A	XP_016870338.1:p.Asp244Asn
XR_001746328.2:n.955G>A
XR_001746329.2:n.907G>A
NM_001698.3:c.730G>A MANE Select	NP_001689.1:p.Asp244Asn
NM_001306190.2:c.643G>A	NP_001293119.1:p.Asp215Asn
NM_001351431.2:c.403G>A	NP_001338360.1:p.Asp135Asn
NM_001351432.2:c.403G>A	NP_001338361.1:p.Asp135Asn
NM_001351433.2:c.403G>A	NP_001338362.1:p.Asp135Asn