Canonical Allele Identifier: CA1863689149

Gene: AUH

Linked Data

• dbSNP Id: rs1827103518
• gnomAD v4: 9-91220989-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91220989_91220990insT , CM000671.2:g.91220989_91220990insT	GRCh38
NC_000009.11:g.93983271_93983272insT , CM000671.1:g.93983271_93983272insT	GRCh37
NC_000009.10:g.93023092_93023093insT	NCBI36
NG_008017.1:g.145935_145936insA , LRG_449:g.145935_145936insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375731.9:c.658_659insA MANE Select	ENSP00000364883.5:p.Gly220GlufsTer?
ENST00000303617.5:c.571_572insA	ENSP00000307334.5:p.Gly191GlufsTer?
ENST00000375731.8:c.658_659insA	ENSP00000364883.4:p.Gly220GlufsTer?
NM_001306190.1:c.571_572insA	NP_001293119.1:p.Gly191GlufsTer?
NM_001698.2:c.658_659insA , LRG_449t1:c.658_659insA	NP_001689.1:p.Gly220GlufsTer?
XM_005252066.2:c.688_689insA	XP_005252123.1:p.Gly230GlufsTer?
XM_005252067.3:c.688_689insA	XP_005252124.1:p.Gly230GlufsTer?
XM_005252069.3:c.688_689insA	XP_005252126.1:p.Gly230GlufsTer?
XM_005252073.2:c.196_197insA	XP_005252130.1:p.Gly66GlufsTer?
XM_006717150.2:c.601_602insA	XP_006717213.1:p.Gly201GlufsTer?
XM_011518801.1:c.334_335insA	XP_011517103.1:p.Gly112GlufsTer?
XM_011518802.1:c.331_332insA	XP_011517104.1:p.Gly111GlufsTer?
NM_001351431.1:c.331_332insA	NP_001338360.1:p.Gly111GlufsTer?
NM_001351432.1:c.331_332insA	NP_001338361.1:p.Gly111GlufsTer?
NM_001351433.1:c.331_332insA	NP_001338362.1:p.Gly111GlufsTer?
XM_005252066.3:c.688_689insA	XP_005252123.1:p.Gly230GlufsTer?
XM_005252067.4:c.688_689insA	XP_005252124.1:p.Gly230GlufsTer?
XM_005252069.4:c.688_689insA	XP_005252126.1:p.Gly230GlufsTer?
XM_006717150.3:c.601_602insA	XP_006717213.1:p.Gly201GlufsTer?
XM_017014849.1:c.658_659insA	XP_016870338.1:p.Gly220GlufsTer?
XR_001746328.2:n.883_884insA
XR_001746329.2:n.835_836insA
NM_001698.3:c.658_659insA MANE Select	NP_001689.1:p.Gly220GlufsTer?
NM_001306190.2:c.571_572insA	NP_001293119.1:p.Gly191GlufsTer?
NM_001351431.2:c.331_332insA	NP_001338360.1:p.Gly111GlufsTer?
NM_001351432.2:c.331_332insA	NP_001338361.1:p.Gly111GlufsTer?
NM_001351433.2:c.331_332insA	NP_001338362.1:p.Gly111GlufsTer?