Canonical Allele Identifier: CA5119752

Gene: AUH

Linked Data

• dbSNP Id: rs147928826
• ExAC: 9:93983221 T / C
• gnomAD v2: 9-93983221-T-C
• gnomAD v3: 9-91220939-T-C
• gnomAD v4: 9-91220939-T-C
• MyVariant Identifiers: chr9:g.93983221T>C (hg19) ; chr9:g.91220939T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91220939T>C , CM000671.2:g.91220939T>C	GRCh38
NC_000009.11:g.93983221T>C , CM000671.1:g.93983221T>C	GRCh37
NC_000009.10:g.93023042T>C	NCBI36
NG_008017.1:g.145986A>G , LRG_449:g.145986A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375731.9:c.709A>G MANE Select	ENSP00000364883.5:p.Ile237Val
ENST00000303617.5:c.622A>G	ENSP00000307334.5:p.Ile208Val
ENST00000375731.8:c.709A>G	ENSP00000364883.4:p.Ile237Val
NM_001306190.1:c.622A>G	NP_001293119.1:p.Ile208Val
NM_001698.2:c.709A>G , LRG_449t1:c.709A>G	NP_001689.1:p.Ile237Val
XM_005252066.2:c.739A>G	XP_005252123.1:p.Ile247Val
XM_005252067.3:c.739A>G	XP_005252124.1:p.Ile247Val
XM_005252069.3:c.739A>G	XP_005252126.1:p.Ile247Val
XM_005252073.2:c.247A>G	XP_005252130.1:p.Ile83Val
XM_006717150.2:c.652A>G	XP_006717213.1:p.Ile218Val
XM_011518801.1:c.385A>G	XP_011517103.1:p.Ile129Val
XM_011518802.1:c.382A>G	XP_011517104.1:p.Ile128Val
NM_001351431.1:c.382A>G	NP_001338360.1:p.Ile128Val
NM_001351432.1:c.382A>G	NP_001338361.1:p.Ile128Val
NM_001351433.1:c.382A>G	NP_001338362.1:p.Ile128Val
XM_005252066.3:c.739A>G	XP_005252123.1:p.Ile247Val
XM_005252067.4:c.739A>G	XP_005252124.1:p.Ile247Val
XM_005252069.4:c.739A>G	XP_005252126.1:p.Ile247Val
XM_006717150.3:c.652A>G	XP_006717213.1:p.Ile218Val
XM_017014849.1:c.709A>G	XP_016870338.1:p.Ile237Val
XR_001746328.2:n.934A>G
XR_001746329.2:n.886A>G
NM_001698.3:c.709A>G MANE Select	NP_001689.1:p.Ile237Val
NM_001306190.2:c.622A>G	NP_001293119.1:p.Ile208Val
NM_001351431.2:c.382A>G	NP_001338360.1:p.Ile128Val
NM_001351432.2:c.382A>G	NP_001338361.1:p.Ile128Val
NM_001351433.2:c.382A>G	NP_001338362.1:p.Ile128Val