Canonical Allele Identifier: CA373835048

Gene: AUH

Linked Data

• MyVariant Identifiers: chr9:g.93983115A>C (hg19) ; chr9:g.91220833A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91220833A>C , CM000671.2:g.91220833A>C	GRCh38
NC_000009.11:g.93983115A>C , CM000671.1:g.93983115A>C	GRCh37
NC_000009.10:g.93022936A>C	NCBI36
NG_008017.1:g.146092T>G , LRG_449:g.146092T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375731.9:c.815T>G MANE Select	ENSP00000364883.5:p.Leu272Trp
ENST00000303617.5:c.728T>G	ENSP00000307334.5:p.Leu243Trp
ENST00000375731.8:c.815T>G	ENSP00000364883.4:p.Leu272Trp
ENST00000473695.1:n.87T>G
NM_001306190.1:c.728T>G	NP_001293119.1:p.Leu243Trp
NM_001698.2:c.815T>G , LRG_449t1:c.815T>G	NP_001689.1:p.Leu272Trp
XM_005252066.2:c.845T>G	XP_005252123.1:p.Leu282Trp
XM_005252067.3:c.845T>G	XP_005252124.1:p.Leu282Trp
XM_005252069.3:c.845T>G	XP_005252126.1:p.Leu282Trp
XM_005252073.2:c.353T>G	XP_005252130.1:p.Leu118Trp
XM_006717150.2:c.758T>G	XP_006717213.1:p.Leu253Trp
XM_011518801.1:c.491T>G	XP_011517103.1:p.Leu164Trp
XM_011518802.1:c.488T>G	XP_011517104.1:p.Leu163Trp
NM_001351431.1:c.488T>G	NP_001338360.1:p.Leu163Trp
NM_001351432.1:c.488T>G	NP_001338361.1:p.Leu163Trp
NM_001351433.1:c.488T>G	NP_001338362.1:p.Leu163Trp
XM_005252066.3:c.845T>G	XP_005252123.1:p.Leu282Trp
XM_005252067.4:c.845T>G	XP_005252124.1:p.Leu282Trp
XM_005252069.4:c.845T>G	XP_005252126.1:p.Leu282Trp
XM_006717150.3:c.758T>G	XP_006717213.1:p.Leu253Trp
XM_017014849.1:c.815T>G	XP_016870338.1:p.Leu272Trp
XR_001746328.2:n.1040T>G
XR_001746329.2:n.992T>G
NM_001698.3:c.815T>G MANE Select	NP_001689.1:p.Leu272Trp
NM_001306190.2:c.728T>G	NP_001293119.1:p.Leu243Trp
NM_001351431.2:c.488T>G	NP_001338360.1:p.Leu163Trp
NM_001351432.2:c.488T>G	NP_001338361.1:p.Leu163Trp
NM_001351433.2:c.488T>G	NP_001338362.1:p.Leu163Trp