Canonical Allele Identifier: CA899789092

Gene: XPC

Linked Data

• dbSNP Id: rs1363429300
• gnomAD v4: 3-14145689-T-C
• MyVariant Identifiers: chr3:g.14187189T>C (hg19) ; chr3:g.14145689T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14145689T>C , CM000665.2:g.14145689T>C	GRCh38
NC_000003.11:g.14187189T>C , CM000665.1:g.14187189T>C	GRCh37
NC_000003.10:g.14162190T>C	NCBI36
NG_011763.1:g.37984A>G , LRG_472:g.37984A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000285021.12:c.*252A>G MANE Select	ENSP00000285021.8:n.*252A>G
ENST00000285021.11:c.*252A>G	ENSP00000285021.7:n.*252A>G
ENST00000601399.3:n.689+6T>C
ENST00000608606.1:c.598+6T>C
ENST00000626721.1:n.588+6T>C
NM_004628.4:c.*252A>G , LRG_472t1:c.*252A>G	NP_004619.3:n.*252A>G
NR_027299.1:n.3055A>G
NM_001354726.1:c.*252A>G	NP_001341655.1:n.*252A>G
NM_001354727.1:c.*252A>G	NP_001341656.1:n.*252A>G
NM_001354729.1:c.*252A>G	NP_001341658.1:n.*252A>G
NM_001354730.1:c.*252A>G	NP_001341659.1:n.*252A>G
NR_148950.1:n.3018A>G
NR_148951.1:n.2894A>G
XR_001740256.2:n.3382A>G
XR_002959580.1:n.3457A>G
XR_002959581.1:n.4725A>G
NM_001354727.2:c.*252A>G	NP_001341656.1:n.*252A>G
NM_004628.5:c.*252A>G MANE Select	NP_004619.3:n.*252A>G
NR_148950.2:n.2947A>G
NR_148951.2:n.2823A>G
NM_001354726.2:c.*252A>G	NP_001341655.1:n.*252A>G
NM_001354729.2:c.*252A>G	NP_001341658.1:n.*252A>G
NM_001354730.2:c.*252A>G	NP_001341659.1:n.*252A>G