Canonical Allele Identifier: CA112846795

Gene: AHRR PDCD6-AHRR

Linked Data

• dbSNP Id: rs542065892
• gnomAD v2: 5-438067-T-C
• gnomAD v3: 5-437952-T-C
• gnomAD v4: 5-437952-T-C
• MyVariant Identifiers: chr5:g.438067T>C (hg19) ; chr5:g.437952T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.437952T>C , CM000667.2:g.437952T>C	GRCh38
NC_000005.9:g.438067T>C , CM000667.1:g.438067T>C	GRCh37
NC_000005.8:g.491067T>C	NCBI36
NG_029834.1:g.138777T>C
NG_029834.2:g.138777T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684583.1:c.*3118T>C (AHRR) MANE Select	ENSP00000507476.1:n.*3118T>C
ENST00000316418.10:c.*3118T>C (AHRR)	ENSP00000323816.6:n.*3118T>C
ENST00000505113.6:c.*5208T>C (PDCD6-AHRR)	ENSP00000424601.2:n.*5208T>C
ENST00000675395.1:c.*5262T>C (PDCD6-AHRR)	ENSP00000502570.1:n.*5262T>C
ENST00000316418.9:c.*3118T>C (AHRR)	ENSP00000323816.5:n.*3118T>C
NM_001242412.1:c.*3118T>C (AHRR)	NP_001229341.1:n.*3118T>C
NM_020731.4:c.*3118T>C (AHRR)	NP_065782.2:n.*3118T>C
NM_001377236.1:c.*3118T>C (AHRR) MANE Select	NP_001364165.1:n.*3118T>C
NM_001377239.1:c.*3118T>C (AHRR)	NP_001364168.1:n.*3118T>C
NR_165159.2:n.5559T>C (PDCD6-AHRR)
NR_165163.2:n.5505T>C (PDCD6-AHRR)