Canonical Allele Identifier: CA466233287
Gene: AUH HGNC NCBI

Linked Data

dbSNP Id: rs1480719706
gnomAD v2: 9-94124058-G-C
gnomAD v4: 9-91361776-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.91361776G>C , CM000671.2:g.91361776G>C GRCh38
NC_000009.11:g.94124058G>C , CM000671.1:g.94124058G>C GRCh37
NC_000009.10:g.93163879G>C NCBI36
NG_008017.1:g.5149C>G , LRG_449:g.5149C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375731.9:c.114C>G MANE Select ENSP00000364883.5:p.Gly38=
ENST00000303617.5:c.114C>G ENSP00000307334.5:p.Gly38=
ENST00000375731.8:c.114C>G ENSP00000364883.4:p.Gly38=
ENST00000478465.5:n.112C>G
NM_001306190.1:c.114C>G NP_001293119.1:p.Gly38=
NM_001698.2:c.114C>G , LRG_449t1:c.114C>G NP_001689.1:p.Gly38=
XM_005252066.2:c.114C>G XP_005252123.1:p.Gly38=
XM_005252067.3:c.114C>G XP_005252124.1:p.Gly38=
XM_005252069.3:c.114C>G XP_005252126.1:p.Gly38=
XM_005252072.1:c.114C>G XP_005252129.1:p.Gly38=
XM_006717150.2:c.114C>G XP_006717213.1:p.Gly38=
XM_011518800.1:c.114C>G XP_011517102.1:p.Gly38=
XM_011518803.1:c.114C>G XP_011517105.1:p.Gly38=
XM_011518804.1:c.114C>G XP_011517106.1:p.Gly38=
XR_929814.1:n.164C>G
NM_001351431.1:c.-284C>G NP_001338360.1:n.-284C>G
NM_001351432.1:c.-376C>G NP_001338361.1:n.-376C>G
NM_001351433.1:c.-284C>G NP_001338362.1:n.-284C>G
XM_005252066.3:c.114C>G XP_005252123.1:p.Gly38=
XM_005252067.4:c.114C>G XP_005252124.1:p.Gly38=
XM_005252069.4:c.114C>G XP_005252126.1:p.Gly38=
XM_005252072.2:c.114C>G XP_005252129.1:p.Gly38=
XM_006717150.3:c.114C>G XP_006717213.1:p.Gly38=
XM_011518800.3:c.114C>G XP_011517102.1:p.Gly38=
XM_011518803.2:c.114C>G XP_011517105.1:p.Gly38=
XM_017014849.1:c.114C>G XP_016870338.1:p.Gly38=
XR_001746328.2:n.167C>G
XR_001746329.2:n.149C>G
NM_001698.3:c.114C>G MANE Select NP_001689.1:p.Gly38=
NM_001306190.2:c.114C>G NP_001293119.1:p.Gly38=
NM_001351431.2:c.-284C>G NP_001338360.1:n.-284C>G
NM_001351432.2:c.-376C>G NP_001338361.1:n.-376C>G
NM_001351433.2:c.-284C>G NP_001338362.1:n.-284C>G