Canonical Allele Identifier: CA69742243

Gene: XPC

Linked Data

• dbSNP Id: rs900217168
• gnomAD v4: 3-14148679-G-A
• MyVariant Identifiers: chr3:g.14190179G>A (hg19) ; chr3:g.14148679G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148679G>A , CM000665.2:g.14148679G>A	GRCh38
NC_000003.11:g.14190179G>A , CM000665.1:g.14190179G>A	GRCh37
NC_000003.10:g.14165180G>A	NCBI36
NG_011763.1:g.34994C>T , LRG_472:g.34994C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2303C>T MANE Select	ENSP00000285021.8:p.Pro768Leu
ENST00000285021.11:c.2303C>T	ENSP00000285021.7:p.Pro768Leu
ENST00000427795.2:n.168C>T
ENST00000476581.6:c.*1756C>T	ENSP00000424548.1:n.*1756C>T
NM_004628.4:c.2303C>T , LRG_472t1:c.2303C>T	NP_004619.3:p.Pro768Leu
NR_027299.1:n.2283C>T
XM_011534092.1:c.2303C>T	XP_011532394.1:p.Pro768Leu
NM_001354726.1:c.1724C>T	NP_001341655.1:p.Pro575Leu
NM_001354727.1:c.2297C>T	NP_001341656.1:p.Pro766Leu
NM_001354729.1:c.2285C>T	NP_001341658.1:p.Pro762Leu
NM_001354730.1:c.2057C>T	NP_001341659.1:p.Pro686Leu
NR_148950.1:n.2246C>T
NR_148951.1:n.2122C>T
XR_001740256.2:n.2336C>T
XR_002959580.1:n.2336C>T
XR_002959581.1:n.3953C>T
NM_001354727.2:c.2297C>T	NP_001341656.1:p.Pro766Leu
NM_004628.5:c.2303C>T MANE Select	NP_004619.3:p.Pro768Leu
NR_148950.2:n.2175C>T
NR_148951.2:n.2051C>T
NM_001354726.2:c.1724C>T	NP_001341655.1:p.Pro575Leu
NM_001354729.2:c.2285C>T	NP_001341658.1:p.Pro762Leu
NM_001354730.2:c.2057C>T	NP_001341659.1:p.Pro686Leu