Canonical Allele Identifier: CA373835370

Gene: AUH

Linked Data

• gnomAD v4: 9-91220987-T-C
• MyVariant Identifiers: chr9:g.93983269T>C (hg19) ; chr9:g.91220987T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91220987T>C , CM000671.2:g.91220987T>C	GRCh38
NC_000009.11:g.93983269T>C , CM000671.1:g.93983269T>C	GRCh37
NC_000009.10:g.93023090T>C	NCBI36
NG_008017.1:g.145938A>G , LRG_449:g.145938A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375731.9:c.661A>G MANE Select	ENSP00000364883.5:p.Thr221Ala
ENST00000303617.5:c.574A>G	ENSP00000307334.5:p.Thr192Ala
ENST00000375731.8:c.661A>G	ENSP00000364883.4:p.Thr221Ala
NM_001306190.1:c.574A>G	NP_001293119.1:p.Thr192Ala
NM_001698.2:c.661A>G , LRG_449t1:c.661A>G	NP_001689.1:p.Thr221Ala
XM_005252066.2:c.691A>G	XP_005252123.1:p.Thr231Ala
XM_005252067.3:c.691A>G	XP_005252124.1:p.Thr231Ala
XM_005252069.3:c.691A>G	XP_005252126.1:p.Thr231Ala
XM_005252073.2:c.199A>G	XP_005252130.1:p.Thr67Ala
XM_006717150.2:c.604A>G	XP_006717213.1:p.Thr202Ala
XM_011518801.1:c.337A>G	XP_011517103.1:p.Thr113Ala
XM_011518802.1:c.334A>G	XP_011517104.1:p.Thr112Ala
NM_001351431.1:c.334A>G	NP_001338360.1:p.Thr112Ala
NM_001351432.1:c.334A>G	NP_001338361.1:p.Thr112Ala
NM_001351433.1:c.334A>G	NP_001338362.1:p.Thr112Ala
XM_005252066.3:c.691A>G	XP_005252123.1:p.Thr231Ala
XM_005252067.4:c.691A>G	XP_005252124.1:p.Thr231Ala
XM_005252069.4:c.691A>G	XP_005252126.1:p.Thr231Ala
XM_006717150.3:c.604A>G	XP_006717213.1:p.Thr202Ala
XM_017014849.1:c.661A>G	XP_016870338.1:p.Thr221Ala
XR_001746328.2:n.886A>G
XR_001746329.2:n.838A>G
NM_001698.3:c.661A>G MANE Select	NP_001689.1:p.Thr221Ala
NM_001306190.2:c.574A>G	NP_001293119.1:p.Thr192Ala
NM_001351431.2:c.334A>G	NP_001338360.1:p.Thr112Ala
NM_001351432.2:c.334A>G	NP_001338361.1:p.Thr112Ala
NM_001351433.2:c.334A>G	NP_001338362.1:p.Thr112Ala