Canonical Allele Identifier: CA5119816

Gene: AUH

Linked Data

• dbSNP Id: rs747475416
• ExAC: 9:94060277 A / G
• gnomAD v2: 9-94060277-A-G
• gnomAD v3: 9-91297995-A-G
• gnomAD v4: 9-91297995-A-G
• MyVariant Identifiers: chr9:g.94060277A>G (hg19) ; chr9:g.91297995A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91297995A>G , CM000671.2:g.91297995A>G	GRCh38
NC_000009.11:g.94060277A>G , CM000671.1:g.94060277A>G	GRCh37
NC_000009.10:g.93100098A>G	NCBI36
NG_008017.1:g.68930T>C , LRG_449:g.68930T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375731.9:c.587T>C MANE Select	ENSP00000364883.5:p.Ile196Thr
ENST00000303617.5:c.500T>C	ENSP00000307334.5:p.Ile167Thr
ENST00000375731.8:c.587T>C	ENSP00000364883.4:p.Ile196Thr
ENST00000478465.5:n.747T>C
NM_001306190.1:c.500T>C	NP_001293119.1:p.Ile167Thr
NM_001698.2:c.587T>C , LRG_449t1:c.587T>C	NP_001689.1:p.Ile196Thr
XM_005252066.2:c.617T>C	XP_005252123.1:p.Ile206Thr
XM_005252067.3:c.617T>C	XP_005252124.1:p.Ile206Thr
XM_005252069.3:c.617T>C	XP_005252126.1:p.Ile206Thr
XM_005252072.1:c.587T>C	XP_005252129.1:p.Ile196Thr
XM_005252073.2:c.125T>C	XP_005252130.1:p.Ile42Thr
XM_006717150.2:c.530T>C	XP_006717213.1:p.Ile177Thr
XM_011518800.1:c.617T>C	XP_011517102.1:p.Ile206Thr
XM_011518801.1:c.263T>C	XP_011517103.1:p.Ile88Thr
XM_011518802.1:c.260T>C	XP_011517104.1:p.Ile87Thr
NM_001351431.1:c.260T>C	NP_001338360.1:p.Ile87Thr
NM_001351432.1:c.260T>C	NP_001338361.1:p.Ile87Thr
NM_001351433.1:c.260T>C	NP_001338362.1:p.Ile87Thr
XM_005252066.3:c.617T>C	XP_005252123.1:p.Ile206Thr
XM_005252067.4:c.617T>C	XP_005252124.1:p.Ile206Thr
XM_005252069.4:c.617T>C	XP_005252126.1:p.Ile206Thr
XM_005252072.2:c.587T>C	XP_005252129.1:p.Ile196Thr
XM_006717150.3:c.530T>C	XP_006717213.1:p.Ile177Thr
XM_011518800.3:c.617T>C	XP_011517102.1:p.Ile206Thr
XM_017014849.1:c.587T>C	XP_016870338.1:p.Ile196Thr
XR_001746328.2:n.670T>C
XR_001746329.2:n.622T>C
NM_001698.3:c.587T>C MANE Select	NP_001689.1:p.Ile196Thr
NM_001306190.2:c.500T>C	NP_001293119.1:p.Ile167Thr
NM_001351431.2:c.260T>C	NP_001338360.1:p.Ile87Thr
NM_001351432.2:c.260T>C	NP_001338361.1:p.Ile87Thr
NM_001351433.2:c.260T>C	NP_001338362.1:p.Ile87Thr