Canonical Allele Identifier: CA5119734

Gene: AUH

Linked Data

• ClinVar Variation Id: 377540
• ClinVar RCV Id: RCV000526949 ; RCV001718811
• dbSNP Id: rs145208407
• ExAC: 9:93983123 C / T
• gnomAD v2: 9-93983123-C-T
• gnomAD v3: 9-91220841-C-T
• gnomAD v4: 9-91220841-C-T
• MyVariant Identifiers: chr9:g.93983123C>T (hg19) ; chr9:g.91220841C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91220841C>T , CM000671.2:g.91220841C>T	GRCh38
NC_000009.11:g.93983123C>T , CM000671.1:g.93983123C>T	GRCh37
NC_000009.10:g.93022944C>T	NCBI36
NG_008017.1:g.146084G>A , LRG_449:g.146084G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375731.9:c.807G>A MANE Select	ENSP00000364883.5:p.Arg269=
ENST00000303617.5:c.720G>A	ENSP00000307334.5:p.Arg240=
ENST00000375731.8:c.807G>A	ENSP00000364883.4:p.Arg269=
ENST00000473695.1:n.79G>A
NM_001306190.1:c.720G>A	NP_001293119.1:p.Arg240=
NM_001698.2:c.807G>A , LRG_449t1:c.807G>A	NP_001689.1:p.Arg269=
XM_005252066.2:c.837G>A	XP_005252123.1:p.Arg279=
XM_005252067.3:c.837G>A	XP_005252124.1:p.Arg279=
XM_005252069.3:c.837G>A	XP_005252126.1:p.Arg279=
XM_005252073.2:c.345G>A	XP_005252130.1:p.Arg115=
XM_006717150.2:c.750G>A	XP_006717213.1:p.Arg250=
XM_011518801.1:c.483G>A	XP_011517103.1:p.Arg161=
XM_011518802.1:c.480G>A	XP_011517104.1:p.Arg160=
NM_001351431.1:c.480G>A	NP_001338360.1:p.Arg160=
NM_001351432.1:c.480G>A	NP_001338361.1:p.Arg160=
NM_001351433.1:c.480G>A	NP_001338362.1:p.Arg160=
XM_005252066.3:c.837G>A	XP_005252123.1:p.Arg279=
XM_005252067.4:c.837G>A	XP_005252124.1:p.Arg279=
XM_005252069.4:c.837G>A	XP_005252126.1:p.Arg279=
XM_006717150.3:c.750G>A	XP_006717213.1:p.Arg250=
XM_017014849.1:c.807G>A	XP_016870338.1:p.Arg269=
XR_001746328.2:n.1032G>A
XR_001746329.2:n.984G>A
NM_001698.3:c.807G>A MANE Select	NP_001689.1:p.Arg269=
NM_001306190.2:c.720G>A	NP_001293119.1:p.Arg240=
NM_001351431.2:c.480G>A	NP_001338360.1:p.Arg160=
NM_001351432.2:c.480G>A	NP_001338361.1:p.Arg160=
NM_001351433.2:c.480G>A	NP_001338362.1:p.Arg160=