Canonical Allele Identifier: CA2579377891
Gene: AUH HGNC NCBI

Linked Data

gnomAD v4: 9-91356069-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.91356069G>A , CM000671.2:g.91356069G>A GRCh38
NC_000009.11:g.94118351G>A , CM000671.1:g.94118351G>A GRCh37
NC_000009.10:g.93158172G>A NCBI36
NG_008017.1:g.10856C>T , LRG_449:g.10856C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000375731.9:c.330+19C>T MANE Select ENSP00000364883.5:n.330+19C>T
ENST00000303617.5:c.330+19C>T ENSP00000307334.5:n.330+19C>T
ENST00000375731.8:c.330+19C>T ENSP00000364883.4:n.330+19C>T
ENST00000475023.1:n.34+19C>T
ENST00000478465.5:n.490+19C>T
NM_001306190.1:c.330+19C>T NP_001293119.1:n.330+19C>T
NM_001698.2:c.330+19C>T , LRG_449t1:c.330+19C>T NP_001689.1:n.330+19C>T
XM_005252066.2:c.360+19C>T XP_005252123.1:n.360+19C>T
XM_005252067.3:c.360+19C>T XP_005252124.1:n.360+19C>T
XM_005252069.3:c.360+19C>T XP_005252126.1:n.360+19C>T
XM_005252072.1:c.330+19C>T XP_005252129.1:n.330+19C>T
XM_006717150.2:c.360+19C>T XP_006717213.1:n.360+19C>T
XM_011518800.1:c.360+19C>T XP_011517102.1:n.360+19C>T
XM_011518802.1:c.3+19C>T XP_011517104.1:n.3+19C>T
XM_011518803.1:c.360+19C>T XP_011517105.1:n.360+19C>T
XM_011518804.1:c.330+19C>T XP_011517106.1:n.330+19C>T
XR_929814.1:n.410+19C>T
NM_001351431.1:c.3+19C>T NP_001338360.1:n.3+19C>T
NM_001351432.1:c.3+19C>T NP_001338361.1:n.3+19C>T
NM_001351433.1:c.3+19C>T NP_001338362.1:n.3+19C>T
XM_005252066.3:c.360+19C>T XP_005252123.1:n.360+19C>T
XM_005252067.4:c.360+19C>T XP_005252124.1:n.360+19C>T
XM_005252069.4:c.360+19C>T XP_005252126.1:n.360+19C>T
XM_005252072.2:c.330+19C>T XP_005252129.1:n.330+19C>T
XM_006717150.3:c.360+19C>T XP_006717213.1:n.360+19C>T
XM_011518800.3:c.360+19C>T XP_011517102.1:n.360+19C>T
XM_011518803.2:c.360+19C>T XP_011517105.1:n.360+19C>T
XM_017014849.1:c.330+19C>T XP_016870338.1:n.330+19C>T
XR_001746328.2:n.413+19C>T
XR_001746329.2:n.365+19C>T
NM_001698.3:c.330+19C>T MANE Select NP_001689.1:n.330+19C>T
NM_001306190.2:c.330+19C>T NP_001293119.1:n.330+19C>T
NM_001351431.2:c.3+19C>T NP_001338360.1:n.3+19C>T
NM_001351432.2:c.3+19C>T NP_001338361.1:n.3+19C>T
NM_001351433.2:c.3+19C>T NP_001338362.1:n.3+19C>T