Canonical Allele Identifier: CA1072388317
Gene: AHRR HGNC NCBI
PDCD6-AHRR HGNC NCBI

Linked Data

dbSNP Id: rs1737168647
gnomAD v3: 5-438007-T-C
gnomAD v4: 5-438007-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.438007T>C , CM000667.2:g.438007T>C GRCh38
NC_000005.9:g.438122T>C , CM000667.1:g.438122T>C GRCh37
NC_000005.8:g.491122T>C NCBI36
NG_029834.1:g.138832T>C
NG_029834.2:g.138832T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000684583.1:c.*3173T>C (AHRR) MANE Select ENSP00000507476.1:n.*3173T>C
ENST00000316418.10:c.*3173T>C (AHRR) ENSP00000323816.6:n.*3173T>C
ENST00000505113.6:c.*5263T>C (PDCD6-AHRR) ENSP00000424601.2:n.*5263T>C
ENST00000675395.1:c.*5317T>C (PDCD6-AHRR) ENSP00000502570.1:n.*5317T>C
ENST00000316418.9:c.*3173T>C (AHRR) ENSP00000323816.5:n.*3173T>C
NM_001242412.1:c.*3173T>C (AHRR) NP_001229341.1:n.*3173T>C
NM_020731.4:c.*3173T>C (AHRR) NP_065782.2:n.*3173T>C
NM_001377236.1:c.*3173T>C (AHRR) MANE Select NP_001364165.1:n.*3173T>C
NM_001377239.1:c.*3173T>C (AHRR) NP_001364168.1:n.*3173T>C
NR_165159.2:n.5614T>C (PDCD6-AHRR)
NR_165163.2:n.5560T>C (PDCD6-AHRR)