Canonical Allele Identifier: CA5119838
Community Standard Title: NM_001698.3(AUH):c.505+1G>C
Gene: AUH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.91325317C>G , CM000671.2:g.91325317C>G GRCh38
NC_000009.11:g.94087599C>G , CM000671.1:g.94087599C>G GRCh37
NC_000009.10:g.93127420C>G NCBI36
NG_008017.1:g.41608G>C , LRG_449:g.41608G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001698.3:c.505+1G>C MANE Select NP_001689.1:n.505+1G>C
ENST00000375731.9:c.505+1G>C MANE Select ENSP00000364883.5:n.505+1G>C
NM_001306190.1:c.419-27241G>C NP_001293119.1:n.419-27241G>C
NM_001306190.2:c.419-27241G>C NP_001293119.1:n.419-27241G>C
NM_001351431.1:c.178+1G>C NP_001338360.1:n.178+1G>C
NM_001351431.2:c.178+1G>C NP_001338360.1:n.178+1G>C
NM_001351432.1:c.178+1G>C NP_001338361.1:n.178+1G>C
NM_001351432.2:c.178+1G>C NP_001338361.1:n.178+1G>C
NM_001351433.1:c.178+1G>C NP_001338362.1:n.178+1G>C
NM_001351433.2:c.178+1G>C NP_001338362.1:n.178+1G>C
NM_001698.2:c.505+1G>C , LRG_449t1:c.505+1G>C NP_001689.1:n.505+1G>C
ENST00000303617.5:c.419-27241G>C ENSP00000307334.5:n.419-27241G>C
ENST00000375731.8:c.505+1G>C ENSP00000364883.4:n.505+1G>C
ENST00000478465.5:n.665+1G>C
XM_005252066.2:c.535+1G>C XP_005252123.1:n.535+1G>C
XM_005252066.3:c.535+1G>C XP_005252123.1:n.535+1G>C
XM_005252067.3:c.535+1G>C XP_005252124.1:n.535+1G>C
XM_005252067.4:c.535+1G>C XP_005252124.1:n.535+1G>C
XM_005252069.3:c.535+1G>C XP_005252126.1:n.535+1G>C
XM_005252069.4:c.535+1G>C XP_005252126.1:n.535+1G>C
XM_005252072.1:c.505+1G>C XP_005252129.1:n.505+1G>C
XM_005252072.2:c.505+1G>C XP_005252129.1:n.505+1G>C
XM_006717150.2:c.449-27241G>C XP_006717213.1:n.449-27241G>C
XM_006717150.3:c.449-27241G>C XP_006717213.1:n.449-27241G>C
XM_011518800.1:c.535+1G>C XP_011517102.1:n.535+1G>C
XM_011518800.3:c.535+1G>C XP_011517102.1:n.535+1G>C
XM_011518801.1:c.181+1G>C XP_011517103.1:n.181+1G>C
XM_011518802.1:c.178+1G>C XP_011517104.1:n.178+1G>C
XM_017014849.1:c.505+1G>C XP_016870338.1:n.505+1G>C
XR_001746328.2:n.588+1G>C
XR_001746329.2:n.540+1G>C