Canonical Allele Identifier: CA11437525

Gene: XPC

Linked Data

• dbSNP Id: rs2607737
• gnomAD v2: 3-14193168-C-T
• gnomAD v3: 3-14151668-C-T
• gnomAD v4: 3-14151668-C-T
• MyVariant Identifiers: chr3:g.14193168C>T (hg19) ; chr3:g.14151668C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14151668C>T , CM000665.2:g.14151668C>T	GRCh38
NC_000003.11:g.14193168C>T , CM000665.1:g.14193168C>T	GRCh37
NC_000003.10:g.14168169C>T	NCBI36
NG_011763.1:g.32005G>A , LRG_472:g.32005G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000285021.12:c.2115+667G>A MANE Select	ENSP00000285021.8:n.2115+667G>A
ENST00000285021.11:c.2115+667G>A	ENSP00000285021.7:n.2115+667G>A
ENST00000476581.6:c.*1568+667G>A	ENSP00000424548.1:n.*1568+667G>A
NM_004628.4:c.2115+667G>A , LRG_472t1:c.2115+667G>A	NP_004619.3:n.2115+667G>A
NR_027299.1:n.2095+667G>A
XM_011534092.1:c.2115+667G>A	XP_011532394.1:n.2115+667G>A
NM_001354726.1:c.1536+667G>A	NP_001341655.1:n.1536+667G>A
NM_001354727.1:c.2109+667G>A	NP_001341656.1:n.2109+667G>A
NM_001354729.1:c.2097+667G>A	NP_001341658.1:n.2097+667G>A
NM_001354730.1:c.1869+667G>A	NP_001341659.1:n.1869+667G>A
NR_148950.1:n.2058+667G>A
NR_148951.1:n.1934+667G>A
XR_001740256.2:n.2148+667G>A
XR_002959580.1:n.2148+667G>A
XR_002959581.1:n.3765+667G>A
NM_001354727.2:c.2109+667G>A	NP_001341656.1:n.2109+667G>A
NM_004628.5:c.2115+667G>A MANE Select	NP_004619.3:n.2115+667G>A
NR_148950.2:n.1987+667G>A
NR_148951.2:n.1863+667G>A
NM_001354726.2:c.1536+667G>A	NP_001341655.1:n.1536+667G>A
NM_001354729.2:c.2097+667G>A	NP_001341658.1:n.2097+667G>A
NM_001354730.2:c.1869+667G>A	NP_001341659.1:n.1869+667G>A