Canonical Allele Identifier: CA373835060

Gene: AUH

Linked Data

• dbSNP Id: rs745769060
• gnomAD v2: 9-93983121-T-G
• gnomAD v3: 9-91220839-T-G
• gnomAD v4: 9-91220839-T-G
• MyVariant Identifiers: chr9:g.93983121T>G (hg19) ; chr9:g.91220839T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91220839T>G , CM000671.2:g.91220839T>G	GRCh38
NC_000009.11:g.93983121T>G , CM000671.1:g.93983121T>G	GRCh37
NC_000009.10:g.93022942T>G	NCBI36
NG_008017.1:g.146086A>C , LRG_449:g.146086A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375731.9:c.809A>C MANE Select	ENSP00000364883.5:p.Lys270Thr
ENST00000303617.5:c.722A>C	ENSP00000307334.5:p.Lys241Thr
ENST00000375731.8:c.809A>C	ENSP00000364883.4:p.Lys270Thr
ENST00000473695.1:n.81A>C
NM_001306190.1:c.722A>C	NP_001293119.1:p.Lys241Thr
NM_001698.2:c.809A>C , LRG_449t1:c.809A>C	NP_001689.1:p.Lys270Thr
XM_005252066.2:c.839A>C	XP_005252123.1:p.Lys280Thr
XM_005252067.3:c.839A>C	XP_005252124.1:p.Lys280Thr
XM_005252069.3:c.839A>C	XP_005252126.1:p.Lys280Thr
XM_005252073.2:c.347A>C	XP_005252130.1:p.Lys116Thr
XM_006717150.2:c.752A>C	XP_006717213.1:p.Lys251Thr
XM_011518801.1:c.485A>C	XP_011517103.1:p.Lys162Thr
XM_011518802.1:c.482A>C	XP_011517104.1:p.Lys161Thr
NM_001351431.1:c.482A>C	NP_001338360.1:p.Lys161Thr
NM_001351432.1:c.482A>C	NP_001338361.1:p.Lys161Thr
NM_001351433.1:c.482A>C	NP_001338362.1:p.Lys161Thr
XM_005252066.3:c.839A>C	XP_005252123.1:p.Lys280Thr
XM_005252067.4:c.839A>C	XP_005252124.1:p.Lys280Thr
XM_005252069.4:c.839A>C	XP_005252126.1:p.Lys280Thr
XM_006717150.3:c.752A>C	XP_006717213.1:p.Lys251Thr
XM_017014849.1:c.809A>C	XP_016870338.1:p.Lys270Thr
XR_001746328.2:n.1034A>C
XR_001746329.2:n.986A>C
NM_001698.3:c.809A>C MANE Select	NP_001689.1:p.Lys270Thr
NM_001306190.2:c.722A>C	NP_001293119.1:p.Lys241Thr
NM_001351431.2:c.482A>C	NP_001338360.1:p.Lys161Thr
NM_001351432.2:c.482A>C	NP_001338361.1:p.Lys161Thr
NM_001351433.2:c.482A>C	NP_001338362.1:p.Lys161Thr