Canonical Allele Identifier: CA5119653

Gene: AUH

Linked Data

• ClinVar Variation Id: 444773
• ClinVar RCV Id: RCV000513460 ; RCV001168935 ; RCV003159653
• dbSNP Id: rs529693736
• ExAC: 9:93976646 C / T
• gnomAD v2: 9-93976646-C-T
• gnomAD v3: 9-91214364-C-T
• gnomAD v4: 9-91214364-C-T
• COSMIC: COSM5747014
• MyVariant Identifiers: chr9:g.93976646C>T (hg19) ; chr9:g.91214364C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91214364C>T , CM000671.2:g.91214364C>T	GRCh38
NC_000009.11:g.93976646C>T , CM000671.1:g.93976646C>T	GRCh37
NC_000009.10:g.93016467C>T	NCBI36
NG_008017.1:g.152561G>A , LRG_449:g.152561G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000375731.9:c.1004G>A MANE Select	ENSP00000364883.5:p.Arg335His
ENST00000303617.5:c.917G>A	ENSP00000307334.5:p.Arg306His
ENST00000375731.8:c.1004G>A	ENSP00000364883.4:p.Arg335His
ENST00000473695.1:n.228G>A
NM_001306190.1:c.917G>A	NP_001293119.1:p.Arg306His
NM_001698.2:c.1004G>A , LRG_449t1:c.1004G>A	NP_001689.1:p.Arg335His
XM_005252066.2:c.1034G>A	XP_005252123.1:p.Arg345His
XM_005252067.3:c.986G>A	XP_005252124.1:p.Arg329His
XM_005252073.2:c.542G>A	XP_005252130.1:p.Arg181His
XM_006717150.2:c.947G>A	XP_006717213.1:p.Arg316His
XM_011518801.1:c.680G>A	XP_011517103.1:p.Arg227His
XM_011518802.1:c.677G>A	XP_011517104.1:p.Arg226His
NM_001351431.1:c.677G>A	NP_001338360.1:p.Arg226His
NM_001351432.1:c.677G>A	NP_001338361.1:p.Arg226His
NM_001351433.1:c.629G>A	NP_001338362.1:p.Arg210His
XM_005252066.3:c.1034G>A	XP_005252123.1:p.Arg345His
XM_005252067.4:c.986G>A	XP_005252124.1:p.Arg329His
XM_006717150.3:c.947G>A	XP_006717213.1:p.Arg316His
XM_017014849.1:c.956G>A	XP_016870338.1:p.Arg319His
XR_001746328.2:n.1229G>A
XR_001746329.2:n.1181G>A
NM_001698.3:c.1004G>A MANE Select	NP_001689.1:p.Arg335His
NM_001306190.2:c.917G>A	NP_001293119.1:p.Arg306His
NM_001351431.2:c.677G>A	NP_001338360.1:p.Arg226His
NM_001351432.2:c.677G>A	NP_001338361.1:p.Arg226His
NM_001351433.2:c.629G>A	NP_001338362.1:p.Arg210His