Canonical Allele Identifier: CA373835342

Gene: AUH

Linked Data

• ClinVar Variation Id: 2444710
• ClinVar RCV Id: RCV003154458
• dbSNP Id: rs1489712698
• gnomAD v2: 9-93983256-G-A
• gnomAD v4: 9-91220974-G-A
• MyVariant Identifiers: chr9:g.93983256G>A (hg19) ; chr9:g.91220974G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91220974G>A , CM000671.2:g.91220974G>A	GRCh38
NC_000009.11:g.93983256G>A , CM000671.1:g.93983256G>A	GRCh37
NC_000009.10:g.93023077G>A	NCBI36
NG_008017.1:g.145951C>T , LRG_449:g.145951C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375731.9:c.674C>T MANE Select	ENSP00000364883.5:p.Pro225Leu
ENST00000303617.5:c.587C>T	ENSP00000307334.5:p.Pro196Leu
ENST00000375731.8:c.674C>T	ENSP00000364883.4:p.Pro225Leu
NM_001306190.1:c.587C>T	NP_001293119.1:p.Pro196Leu
NM_001698.2:c.674C>T , LRG_449t1:c.674C>T	NP_001689.1:p.Pro225Leu
XM_005252066.2:c.704C>T	XP_005252123.1:p.Pro235Leu
XM_005252067.3:c.704C>T	XP_005252124.1:p.Pro235Leu
XM_005252069.3:c.704C>T	XP_005252126.1:p.Pro235Leu
XM_005252073.2:c.212C>T	XP_005252130.1:p.Pro71Leu
XM_006717150.2:c.617C>T	XP_006717213.1:p.Pro206Leu
XM_011518801.1:c.350C>T	XP_011517103.1:p.Pro117Leu
XM_011518802.1:c.347C>T	XP_011517104.1:p.Pro116Leu
NM_001351431.1:c.347C>T	NP_001338360.1:p.Pro116Leu
NM_001351432.1:c.347C>T	NP_001338361.1:p.Pro116Leu
NM_001351433.1:c.347C>T	NP_001338362.1:p.Pro116Leu
XM_005252066.3:c.704C>T	XP_005252123.1:p.Pro235Leu
XM_005252067.4:c.704C>T	XP_005252124.1:p.Pro235Leu
XM_005252069.4:c.704C>T	XP_005252126.1:p.Pro235Leu
XM_006717150.3:c.617C>T	XP_006717213.1:p.Pro206Leu
XM_017014849.1:c.674C>T	XP_016870338.1:p.Pro225Leu
XR_001746328.2:n.899C>T
XR_001746329.2:n.851C>T
NM_001698.3:c.674C>T MANE Select	NP_001689.1:p.Pro225Leu
NM_001306190.2:c.587C>T	NP_001293119.1:p.Pro196Leu
NM_001351431.2:c.347C>T	NP_001338360.1:p.Pro116Leu
NM_001351432.2:c.347C>T	NP_001338361.1:p.Pro116Leu
NM_001351433.2:c.347C>T	NP_001338362.1:p.Pro116Leu