Canonical Allele Identifier: CA5119756

Gene: AUH

Linked Data

• ClinVar Variation Id: 976619
• ClinVar RCV Id: RCV001253975 ; RCV002570550
• dbSNP Id: rs141700491
• ExAC: 9:93983251 C / T
• gnomAD v2: 9-93983251-C-T
• gnomAD v3: 9-91220969-C-T
• gnomAD v4: 9-91220969-C-T
• MyVariant Identifiers: chr9:g.93983251C>T (hg19) ; chr9:g.91220969C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91220969C>T , CM000671.2:g.91220969C>T	GRCh38
NC_000009.11:g.93983251C>T , CM000671.1:g.93983251C>T	GRCh37
NC_000009.10:g.93023072C>T	NCBI36
NG_008017.1:g.145956G>A , LRG_449:g.145956G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375731.9:c.679G>A MANE Select	ENSP00000364883.5:p.Ala227Thr
ENST00000303617.5:c.592G>A	ENSP00000307334.5:p.Ala198Thr
ENST00000375731.8:c.679G>A	ENSP00000364883.4:p.Ala227Thr
NM_001306190.1:c.592G>A	NP_001293119.1:p.Ala198Thr
NM_001698.2:c.679G>A , LRG_449t1:c.679G>A	NP_001689.1:p.Ala227Thr
XM_005252066.2:c.709G>A	XP_005252123.1:p.Ala237Thr
XM_005252067.3:c.709G>A	XP_005252124.1:p.Ala237Thr
XM_005252069.3:c.709G>A	XP_005252126.1:p.Ala237Thr
XM_005252073.2:c.217G>A	XP_005252130.1:p.Ala73Thr
XM_006717150.2:c.622G>A	XP_006717213.1:p.Ala208Thr
XM_011518801.1:c.355G>A	XP_011517103.1:p.Ala119Thr
XM_011518802.1:c.352G>A	XP_011517104.1:p.Ala118Thr
NM_001351431.1:c.352G>A	NP_001338360.1:p.Ala118Thr
NM_001351432.1:c.352G>A	NP_001338361.1:p.Ala118Thr
NM_001351433.1:c.352G>A	NP_001338362.1:p.Ala118Thr
XM_005252066.3:c.709G>A	XP_005252123.1:p.Ala237Thr
XM_005252067.4:c.709G>A	XP_005252124.1:p.Ala237Thr
XM_005252069.4:c.709G>A	XP_005252126.1:p.Ala237Thr
XM_006717150.3:c.622G>A	XP_006717213.1:p.Ala208Thr
XM_017014849.1:c.679G>A	XP_016870338.1:p.Ala227Thr
XR_001746328.2:n.904G>A
XR_001746329.2:n.856G>A
NM_001698.3:c.679G>A MANE Select	NP_001689.1:p.Ala227Thr
NM_001306190.2:c.592G>A	NP_001293119.1:p.Ala198Thr
NM_001351431.2:c.352G>A	NP_001338360.1:p.Ala118Thr
NM_001351432.2:c.352G>A	NP_001338361.1:p.Ala118Thr
NM_001351433.2:c.352G>A	NP_001338362.1:p.Ala118Thr