Canonical Allele Identifier: CA112846583
Gene: AHRR HGNC NCBI
PDCD6-AHRR HGNC NCBI

Linked Data

dbSNP Id: rs961071273
gnomAD v2: 5-437919-G-A
gnomAD v3: 5-437804-G-A
gnomAD v4: 5-437804-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.437804G>A , CM000667.2:g.437804G>A GRCh38
NC_000005.9:g.437919G>A , CM000667.1:g.437919G>A GRCh37
NC_000005.8:g.490919G>A NCBI36
NG_029834.1:g.138629G>A
NG_029834.2:g.138629G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684583.1:c.*2970G>A (AHRR) MANE Select ENSP00000507476.1:n.*2970G>A
ENST00000316418.10:c.*2970G>A (AHRR) ENSP00000323816.6:n.*2970G>A
ENST00000505113.6:c.*5060G>A (PDCD6-AHRR) ENSP00000424601.2:n.*5060G>A
ENST00000675395.1:c.*5114G>A (PDCD6-AHRR) ENSP00000502570.1:n.*5114G>A
ENST00000316418.9:c.*2970G>A (AHRR) ENSP00000323816.5:n.*2970G>A
NM_001242412.1:c.*2970G>A (AHRR) NP_001229341.1:n.*2970G>A
NM_020731.4:c.*2970G>A (AHRR) NP_065782.2:n.*2970G>A
NM_001377236.1:c.*2970G>A (AHRR) MANE Select NP_001364165.1:n.*2970G>A
NM_001377239.1:c.*2970G>A (AHRR) NP_001364168.1:n.*2970G>A
NR_165159.2:n.5411G>A (PDCD6-AHRR)
NR_165163.2:n.5357G>A (PDCD6-AHRR)