Canonical Allele Identifier: CA2266959

Gene: XPC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14145330A>G , CM000665.2:g.14145330A>G	GRCh38
NC_000003.11:g.14186830A>G , CM000665.1:g.14186830A>G	GRCh37
NC_000003.10:g.14161831A>G	NCBI36
NG_008975.1:g.25391A>G , LRG_435:g.25391A>G
NG_011763.1:g.38343T>C , LRG_472:g.38343T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004628.5:c.*611T>C MANE Select	NP_004619.3:n.*611T>C
ENST00000285021.12:c.*611T>C MANE Select	ENSP00000285021.8:n.*611T>C
NM_001354726.1:c.*611T>C	NP_001341655.1:n.*611T>C
NM_001354726.2:c.*611T>C	NP_001341655.1:n.*611T>C
NM_001354727.1:c.*611T>C	NP_001341656.1:n.*611T>C
NM_001354727.2:c.*611T>C	NP_001341656.1:n.*611T>C
NM_001354729.1:c.*611T>C	NP_001341658.1:n.*611T>C
NM_001354729.2:c.*611T>C	NP_001341658.1:n.*611T>C
NM_001354730.1:c.*611T>C	NP_001341659.1:n.*611T>C
NM_001354730.2:c.*611T>C	NP_001341659.1:n.*611T>C
NM_004628.4:c.*611T>C , LRG_472t1:c.*611T>C	NP_004619.3:n.*611T>C
NR_027299.1:n.3414T>C
NR_148950.1:n.3377T>C
NR_148950.2:n.3306T>C
NR_148951.1:n.3253T>C
NR_148951.2:n.3182T>C
ENST00000285021.11:c.*611T>C	ENSP00000285021.7:n.*611T>C
ENST00000601399.3:n.336A>G
ENST00000608606.1:c.245A>G
ENST00000626721.1:n.235A>G
XR_001740256.2:n.3741T>C
XR_002959580.1:n.3816T>C
XR_002959581.1:n.5084T>C