Canonical Allele Identifier: CA2690635573

Gene: AUH

Linked Data

• gnomAD v4: 9-91220689-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91220689C>A , CM000671.2:g.91220689C>A	GRCh38
NC_000009.11:g.93982971C>A , CM000671.1:g.93982971C>A	GRCh37
NC_000009.10:g.93022792C>A	NCBI36
NG_008017.1:g.146236G>T , LRG_449:g.146236G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375731.9:c.843+116G>T MANE Select	ENSP00000364883.5:n.843+116G>T
ENST00000303617.5:c.756+116G>T	ENSP00000307334.5:n.756+116G>T
ENST00000375731.8:c.843+116G>T	ENSP00000364883.4:n.843+116G>T
ENST00000473695.1:n.115+116G>T
NM_001306190.1:c.756+116G>T	NP_001293119.1:n.756+116G>T
NM_001698.2:c.843+116G>T , LRG_449t1:c.843+116G>T	NP_001689.1:n.843+116G>T
XM_005252066.2:c.873+116G>T	XP_005252123.1:n.873+116G>T
XM_005252067.3:c.873+116G>T	XP_005252124.1:n.873+116G>T
XM_005252069.3:c.873+116G>T	XP_005252126.1:n.873+116G>T
XM_005252073.2:c.381+116G>T	XP_005252130.1:n.381+116G>T
XM_006717150.2:c.786+116G>T	XP_006717213.1:n.786+116G>T
XM_011518801.1:c.519+116G>T	XP_011517103.1:n.519+116G>T
XM_011518802.1:c.516+116G>T	XP_011517104.1:n.516+116G>T
NM_001351431.1:c.516+116G>T	NP_001338360.1:n.516+116G>T
NM_001351432.1:c.516+116G>T	NP_001338361.1:n.516+116G>T
NM_001351433.1:c.516+116G>T	NP_001338362.1:n.516+116G>T
XM_005252066.3:c.873+116G>T	XP_005252123.1:n.873+116G>T
XM_005252067.4:c.873+116G>T	XP_005252124.1:n.873+116G>T
XM_005252069.4:c.873+116G>T	XP_005252126.1:n.873+116G>T
XM_006717150.3:c.786+116G>T	XP_006717213.1:n.786+116G>T
XM_017014849.1:c.843+116G>T	XP_016870338.1:n.843+116G>T
XR_001746328.2:n.1068+116G>T
XR_001746329.2:n.1020+116G>T
NM_001698.3:c.843+116G>T MANE Select	NP_001689.1:n.843+116G>T
NM_001306190.2:c.756+116G>T	NP_001293119.1:n.756+116G>T
NM_001351431.2:c.516+116G>T	NP_001338360.1:n.516+116G>T
NM_001351432.2:c.516+116G>T	NP_001338361.1:n.516+116G>T
NM_001351433.2:c.516+116G>T	NP_001338362.1:n.516+116G>T