Canonical Allele Identifier: CA557117970

Gene: AHRR PDCD6-AHRR

Linked Data

• dbSNP Id: rs1197629651
• gnomAD v2: 5-438172-G-T
• gnomAD v3: 5-438057-G-T
• gnomAD v4: 5-438057-G-T
• MyVariant Identifiers: chr5:g.438172G>T (hg19) ; chr5:g.438057G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.438057G>T , CM000667.2:g.438057G>T	GRCh38
NC_000005.9:g.438172G>T , CM000667.1:g.438172G>T	GRCh37
NC_000005.8:g.491172G>T	NCBI36
NG_029834.1:g.138882G>T
NG_029834.2:g.138882G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684583.1:c.*3223G>T (AHRR) MANE Select	ENSP00000507476.1:n.*3223G>T
ENST00000316418.10:c.*3223G>T (AHRR)	ENSP00000323816.6:n.*3223G>T
ENST00000505113.6:c.*5313G>T (PDCD6-AHRR)	ENSP00000424601.2:n.*5313G>T
ENST00000675395.1:c.*5367G>T (PDCD6-AHRR)	ENSP00000502570.1:n.*5367G>T
ENST00000316418.9:c.*3223G>T (AHRR)	ENSP00000323816.5:n.*3223G>T
NM_001242412.1:c.*3223G>T (AHRR)	NP_001229341.1:n.*3223G>T
NM_020731.4:c.*3223G>T (AHRR)	NP_065782.2:n.*3223G>T
NM_001377236.1:c.*3223G>T (AHRR) MANE Select	NP_001364165.1:n.*3223G>T
NM_001377239.1:c.*3223G>T (AHRR)	NP_001364168.1:n.*3223G>T
NR_165159.2:n.5664G>T (PDCD6-AHRR)
NR_165163.2:n.5610G>T (PDCD6-AHRR)