Canonical Allele Identifier: CA5119757

Gene: AUH

Linked Data

• ClinVar Variation Id: 1979155
• ClinVar RCV Id: RCV002766115
• dbSNP Id: rs752044125
• ExAC: 9:93983253 C / T
• gnomAD v2: 9-93983253-C-T
• gnomAD v3: 9-91220971-C-T
• gnomAD v4: 9-91220971-C-T
• MyVariant Identifiers: chr9:g.93983253C>T (hg19) ; chr9:g.91220971C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91220971C>T , CM000671.2:g.91220971C>T	GRCh38
NC_000009.11:g.93983253C>T , CM000671.1:g.93983253C>T	GRCh37
NC_000009.10:g.93023074C>T	NCBI36
NG_008017.1:g.145954G>A , LRG_449:g.145954G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375731.9:c.677G>A MANE Select	ENSP00000364883.5:p.Arg226His
ENST00000303617.5:c.590G>A	ENSP00000307334.5:p.Arg197His
ENST00000375731.8:c.677G>A	ENSP00000364883.4:p.Arg226His
NM_001306190.1:c.590G>A	NP_001293119.1:p.Arg197His
NM_001698.2:c.677G>A , LRG_449t1:c.677G>A	NP_001689.1:p.Arg226His
XM_005252066.2:c.707G>A	XP_005252123.1:p.Arg236His
XM_005252067.3:c.707G>A	XP_005252124.1:p.Arg236His
XM_005252069.3:c.707G>A	XP_005252126.1:p.Arg236His
XM_005252073.2:c.215G>A	XP_005252130.1:p.Arg72His
XM_006717150.2:c.620G>A	XP_006717213.1:p.Arg207His
XM_011518801.1:c.353G>A	XP_011517103.1:p.Arg118His
XM_011518802.1:c.350G>A	XP_011517104.1:p.Arg117His
NM_001351431.1:c.350G>A	NP_001338360.1:p.Arg117His
NM_001351432.1:c.350G>A	NP_001338361.1:p.Arg117His
NM_001351433.1:c.350G>A	NP_001338362.1:p.Arg117His
XM_005252066.3:c.707G>A	XP_005252123.1:p.Arg236His
XM_005252067.4:c.707G>A	XP_005252124.1:p.Arg236His
XM_005252069.4:c.707G>A	XP_005252126.1:p.Arg236His
XM_006717150.3:c.620G>A	XP_006717213.1:p.Arg207His
XM_017014849.1:c.677G>A	XP_016870338.1:p.Arg226His
XR_001746328.2:n.902G>A
XR_001746329.2:n.854G>A
NM_001698.3:c.677G>A MANE Select	NP_001689.1:p.Arg226His
NM_001306190.2:c.590G>A	NP_001293119.1:p.Arg197His
NM_001351431.2:c.350G>A	NP_001338360.1:p.Arg117His
NM_001351432.2:c.350G>A	NP_001338361.1:p.Arg117His
NM_001351433.2:c.350G>A	NP_001338362.1:p.Arg117His