Canonical Allele Identifier: CA5119789

Gene: AUH

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91296014C>T , CM000671.2:g.91296014C>T	GRCh38
NC_000009.11:g.94058296C>T , CM000671.1:g.94058296C>T	GRCh37
NC_000009.10:g.93098117C>T	NCBI36
NG_008017.1:g.70911G>A , LRG_449:g.70911G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001698.3:c.655+7G>A MANE Select	NP_001689.1:n.655+7G>A
ENST00000375731.9:c.655+7G>A MANE Select	ENSP00000364883.5:n.655+7G>A
NM_001306190.1:c.568+7G>A	NP_001293119.1:n.568+7G>A
NM_001306190.2:c.568+7G>A	NP_001293119.1:n.568+7G>A
NM_001351431.1:c.328+7G>A	NP_001338360.1:n.328+7G>A
NM_001351431.2:c.328+7G>A	NP_001338360.1:n.328+7G>A
NM_001351432.1:c.328+7G>A	NP_001338361.1:n.328+7G>A
NM_001351432.2:c.328+7G>A	NP_001338361.1:n.328+7G>A
NM_001351433.1:c.328+7G>A	NP_001338362.1:n.328+7G>A
NM_001351433.2:c.328+7G>A	NP_001338362.1:n.328+7G>A
NM_001698.2:c.655+7G>A , LRG_449t1:c.655+7G>A	NP_001689.1:n.655+7G>A
ENST00000303617.5:c.568+7G>A	ENSP00000307334.5:n.568+7G>A
ENST00000375731.8:c.655+7G>A	ENSP00000364883.4:n.655+7G>A
XM_005252066.2:c.685+7G>A	XP_005252123.1:n.685+7G>A
XM_005252066.3:c.685+7G>A	XP_005252123.1:n.685+7G>A
XM_005252067.3:c.685+7G>A	XP_005252124.1:n.685+7G>A
XM_005252067.4:c.685+7G>A	XP_005252124.1:n.685+7G>A
XM_005252069.3:c.685+7G>A	XP_005252126.1:n.685+7G>A
XM_005252069.4:c.685+7G>A	XP_005252126.1:n.685+7G>A
XM_005252072.1:c.655+7G>A	XP_005252129.1:n.655+7G>A
XM_005252072.2:c.655+7G>A	XP_005252129.1:n.655+7G>A
XM_005252073.2:c.193+7G>A	XP_005252130.1:n.193+7G>A
XM_006717150.2:c.598+7G>A	XP_006717213.1:n.598+7G>A
XM_006717150.3:c.598+7G>A	XP_006717213.1:n.598+7G>A
XM_011518800.1:c.685+7G>A	XP_011517102.1:n.685+7G>A
XM_011518800.3:c.685+7G>A	XP_011517102.1:n.685+7G>A
XM_011518801.1:c.331+7G>A	XP_011517103.1:n.331+7G>A
XM_011518802.1:c.328+7G>A	XP_011517104.1:n.328+7G>A
XM_017014849.1:c.655+7G>A	XP_016870338.1:n.655+7G>A
XR_001746328.2:n.738+7G>A
XR_001746329.2:n.690+7G>A