Canonical Allele Identifier: CA868410003
Gene: AUH HGNC NCBI

Linked Data

ClinVar Variation Id: 1569584
ClinVar RCV Id: RCV002220787
dbSNP Id: rs1341392485

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.91356170A>G , CM000671.2:g.91356170A>G GRCh38
NC_000009.11:g.94118452A>G , CM000671.1:g.94118452A>G GRCh37
NC_000009.10:g.93158273A>G NCBI36
NG_008017.1:g.10755T>C , LRG_449:g.10755T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375731.9:c.263-15T>C MANE Select ENSP00000364883.5:n.263-15T>C
ENST00000303617.5:c.263-15T>C ENSP00000307334.5:n.263-15T>C
ENST00000375731.8:c.263-15T>C ENSP00000364883.4:n.263-15T>C
ENST00000478465.5:n.423-15T>C
NM_001306190.1:c.263-15T>C NP_001293119.1:n.263-15T>C
NM_001698.2:c.263-15T>C , LRG_449t1:c.263-15T>C NP_001689.1:n.263-15T>C
XM_005252066.2:c.293-15T>C XP_005252123.1:n.293-15T>C
XM_005252067.3:c.293-15T>C XP_005252124.1:n.293-15T>C
XM_005252069.3:c.293-15T>C XP_005252126.1:n.293-15T>C
XM_005252072.1:c.263-15T>C XP_005252129.1:n.263-15T>C
XM_006717150.2:c.293-15T>C XP_006717213.1:n.293-15T>C
XM_011518800.1:c.293-15T>C XP_011517102.1:n.293-15T>C
XM_011518802.1:c.-65-15T>C XP_011517104.1:n.-65-15T>C
XM_011518803.1:c.293-15T>C XP_011517105.1:n.293-15T>C
XM_011518804.1:c.263-15T>C XP_011517106.1:n.263-15T>C
XR_929814.1:n.343-15T>C
NM_001351431.1:c.-65-15T>C NP_001338360.1:n.-65-15T>C
NM_001351432.1:c.-65-15T>C NP_001338361.1:n.-65-15T>C
NM_001351433.1:c.-65-15T>C NP_001338362.1:n.-65-15T>C
XM_005252066.3:c.293-15T>C XP_005252123.1:n.293-15T>C
XM_005252067.4:c.293-15T>C XP_005252124.1:n.293-15T>C
XM_005252069.4:c.293-15T>C XP_005252126.1:n.293-15T>C
XM_005252072.2:c.263-15T>C XP_005252129.1:n.263-15T>C
XM_006717150.3:c.293-15T>C XP_006717213.1:n.293-15T>C
XM_011518800.3:c.293-15T>C XP_011517102.1:n.293-15T>C
XM_011518803.2:c.293-15T>C XP_011517105.1:n.293-15T>C
XM_017014849.1:c.263-15T>C XP_016870338.1:n.263-15T>C
XR_001746328.2:n.346-15T>C
XR_001746329.2:n.298-15T>C
NM_001698.3:c.263-15T>C MANE Select NP_001689.1:n.263-15T>C
NM_001306190.2:c.263-15T>C NP_001293119.1:n.263-15T>C
NM_001351431.2:c.-65-15T>C NP_001338360.1:n.-65-15T>C
NM_001351432.2:c.-65-15T>C NP_001338361.1:n.-65-15T>C
NM_001351433.2:c.-65-15T>C NP_001338362.1:n.-65-15T>C