Canonical Allele Identifier: CA2690631007
Gene: AUH HGNC NCBI

Linked Data

gnomAD v4: 9-91297896-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.91297896G>T , CM000671.2:g.91297896G>T GRCh38
NC_000009.11:g.94060178G>T , CM000671.1:g.94060178G>T GRCh37
NC_000009.10:g.93099999G>T NCBI36
NG_008017.1:g.69029C>A , LRG_449:g.69029C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000375731.9:c.598+88C>A MANE Select ENSP00000364883.5:n.598+88C>A
ENST00000303617.5:c.511+88C>A ENSP00000307334.5:n.511+88C>A
ENST00000375731.8:c.598+88C>A ENSP00000364883.4:n.598+88C>A
NM_001306190.1:c.511+88C>A NP_001293119.1:n.511+88C>A
NM_001698.2:c.598+88C>A , LRG_449t1:c.598+88C>A NP_001689.1:n.598+88C>A
XM_005252066.2:c.628+88C>A XP_005252123.1:n.628+88C>A
XM_005252067.3:c.628+88C>A XP_005252124.1:n.628+88C>A
XM_005252069.3:c.628+88C>A XP_005252126.1:n.628+88C>A
XM_005252072.1:c.598+88C>A XP_005252129.1:n.598+88C>A
XM_005252073.2:c.136+88C>A XP_005252130.1:n.136+88C>A
XM_006717150.2:c.541+88C>A XP_006717213.1:n.541+88C>A
XM_011518800.1:c.628+88C>A XP_011517102.1:n.628+88C>A
XM_011518801.1:c.274+88C>A XP_011517103.1:n.274+88C>A
XM_011518802.1:c.271+88C>A XP_011517104.1:n.271+88C>A
NM_001351431.1:c.271+88C>A NP_001338360.1:n.271+88C>A
NM_001351432.1:c.271+88C>A NP_001338361.1:n.271+88C>A
NM_001351433.1:c.271+88C>A NP_001338362.1:n.271+88C>A
XM_005252066.3:c.628+88C>A XP_005252123.1:n.628+88C>A
XM_005252067.4:c.628+88C>A XP_005252124.1:n.628+88C>A
XM_005252069.4:c.628+88C>A XP_005252126.1:n.628+88C>A
XM_005252072.2:c.598+88C>A XP_005252129.1:n.598+88C>A
XM_006717150.3:c.541+88C>A XP_006717213.1:n.541+88C>A
XM_011518800.3:c.628+88C>A XP_011517102.1:n.628+88C>A
XM_017014849.1:c.598+88C>A XP_016870338.1:n.598+88C>A
XR_001746328.2:n.681+88C>A
XR_001746329.2:n.633+88C>A
NM_001698.3:c.598+88C>A MANE Select NP_001689.1:n.598+88C>A
NM_001306190.2:c.511+88C>A NP_001293119.1:n.511+88C>A
NM_001351431.2:c.271+88C>A NP_001338360.1:n.271+88C>A
NM_001351432.2:c.271+88C>A NP_001338361.1:n.271+88C>A
NM_001351433.2:c.271+88C>A NP_001338362.1:n.271+88C>A