Canonical Allele Identifier: CA5119683

Gene: AUH

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91216065A>G , CM000671.2:g.91216065A>G	GRCh38
NC_000009.11:g.93978347A>G , CM000671.1:g.93978347A>G	GRCh37
NC_000009.10:g.93018168A>G	NCBI36
NG_008017.1:g.150860T>C , LRG_449:g.150860T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001698.3:c.936T>C MANE Select	NP_001689.1:p.Tyr312=
ENST00000375731.9:c.936T>C MANE Select	ENSP00000364883.5:p.Tyr312=
NM_001306190.1:c.849T>C	NP_001293119.1:p.Tyr283=
NM_001306190.2:c.849T>C	NP_001293119.1:p.Tyr283=
NM_001351431.1:c.609T>C	NP_001338360.1:p.Tyr203=
NM_001351431.2:c.609T>C	NP_001338360.1:p.Tyr203=
NM_001351432.1:c.609T>C	NP_001338361.1:p.Tyr203=
NM_001351432.2:c.609T>C	NP_001338361.1:p.Tyr203=
NM_001351433.1:c.567+1212T>C	NP_001338362.1:n.567+1212T>C
NM_001351433.2:c.567+1212T>C	NP_001338362.1:n.567+1212T>C
NM_001698.2:c.936T>C , LRG_449t1:c.936T>C	NP_001689.1:p.Tyr312=
ENST00000303617.5:c.849T>C	ENSP00000307334.5:p.Tyr283=
ENST00000375731.8:c.936T>C	ENSP00000364883.4:p.Tyr312=
ENST00000473695.1:n.166+1212T>C
XM_005252066.2:c.966T>C	XP_005252123.1:p.Tyr322=
XM_005252066.3:c.966T>C	XP_005252123.1:p.Tyr322=
XM_005252067.3:c.924+1212T>C	XP_005252124.1:n.924+1212T>C
XM_005252067.4:c.924+1212T>C	XP_005252124.1:n.924+1212T>C
XM_005252073.2:c.474T>C	XP_005252130.1:p.Tyr158=
XM_006717150.2:c.879T>C	XP_006717213.1:p.Tyr293=
XM_006717150.3:c.879T>C	XP_006717213.1:p.Tyr293=
XM_011518801.1:c.612T>C	XP_011517103.1:p.Tyr204=
XM_011518802.1:c.609T>C	XP_011517104.1:p.Tyr203=
XM_017014849.1:c.894+1212T>C	XP_016870338.1:n.894+1212T>C
XR_001746328.2:n.1161T>C
XR_001746329.2:n.1113T>C