Canonical Allele Identifier: CA373835328

Gene: AUH

Linked Data

• dbSNP Id: rs1340925616
• gnomAD v2: 9-93983247-A-G
• gnomAD v4: 9-91220965-A-G
• MyVariant Identifiers: chr9:g.93983247A>G (hg19) ; chr9:g.91220965A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91220965A>G , CM000671.2:g.91220965A>G	GRCh38
NC_000009.11:g.93983247A>G , CM000671.1:g.93983247A>G	GRCh37
NC_000009.10:g.93023068A>G	NCBI36
NG_008017.1:g.145960T>C , LRG_449:g.145960T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375731.9:c.683T>C MANE Select	ENSP00000364883.5:p.Ile228Thr
ENST00000303617.5:c.596T>C	ENSP00000307334.5:p.Ile199Thr
ENST00000375731.8:c.683T>C	ENSP00000364883.4:p.Ile228Thr
NM_001306190.1:c.596T>C	NP_001293119.1:p.Ile199Thr
NM_001698.2:c.683T>C , LRG_449t1:c.683T>C	NP_001689.1:p.Ile228Thr
XM_005252066.2:c.713T>C	XP_005252123.1:p.Ile238Thr
XM_005252067.3:c.713T>C	XP_005252124.1:p.Ile238Thr
XM_005252069.3:c.713T>C	XP_005252126.1:p.Ile238Thr
XM_005252073.2:c.221T>C	XP_005252130.1:p.Ile74Thr
XM_006717150.2:c.626T>C	XP_006717213.1:p.Ile209Thr
XM_011518801.1:c.359T>C	XP_011517103.1:p.Ile120Thr
XM_011518802.1:c.356T>C	XP_011517104.1:p.Ile119Thr
NM_001351431.1:c.356T>C	NP_001338360.1:p.Ile119Thr
NM_001351432.1:c.356T>C	NP_001338361.1:p.Ile119Thr
NM_001351433.1:c.356T>C	NP_001338362.1:p.Ile119Thr
XM_005252066.3:c.713T>C	XP_005252123.1:p.Ile238Thr
XM_005252067.4:c.713T>C	XP_005252124.1:p.Ile238Thr
XM_005252069.4:c.713T>C	XP_005252126.1:p.Ile238Thr
XM_006717150.3:c.626T>C	XP_006717213.1:p.Ile209Thr
XM_017014849.1:c.683T>C	XP_016870338.1:p.Ile228Thr
XR_001746328.2:n.908T>C
XR_001746329.2:n.860T>C
NM_001698.3:c.683T>C MANE Select	NP_001689.1:p.Ile228Thr
NM_001306190.2:c.596T>C	NP_001293119.1:p.Ile199Thr
NM_001351431.2:c.356T>C	NP_001338360.1:p.Ile119Thr
NM_001351432.2:c.356T>C	NP_001338361.1:p.Ile119Thr
NM_001351433.2:c.356T>C	NP_001338362.1:p.Ile119Thr