Canonical Allele Identifier: CA351540014

Gene: XPC

Linked Data

• gnomAD v4: 3-14158283-C-G
• MyVariant Identifiers: chr3:g.14199783C>G (hg19) ; chr3:g.14158283C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14158283C>G , CM000665.2:g.14158283C>G	GRCh38
NC_000003.11:g.14199783C>G , CM000665.1:g.14199783C>G	GRCh37
NC_000003.10:g.14174785C>G	NCBI36
NG_011763.1:g.25390G>C , LRG_472:g.25390G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.1600G>C MANE Select	ENSP00000285021.8:p.Val534Leu
ENST00000285021.11:c.1600G>C	ENSP00000285021.7:p.Val534Leu
ENST00000476581.6:c.*1053G>C	ENSP00000424548.1:n.*1053G>C
NM_004628.4:c.1600G>C , LRG_472t1:c.1600G>C	NP_004619.3:p.Val534Leu
NR_027299.1:n.1580G>C
XM_011534092.1:c.1600G>C	XP_011532394.1:p.Val534Leu
XM_011534093.1:c.1600G>C	XP_011532395.1:p.Val534Leu
NM_001354726.1:c.1021G>C	NP_001341655.1:p.Val341Leu
NM_001354727.1:c.1600G>C	NP_001341656.1:p.Val534Leu
NM_001354729.1:c.1582G>C	NP_001341658.1:p.Val528Leu
NM_001354730.1:c.1600G>C	NP_001341659.1:p.Val534Leu
NR_148950.1:n.1704G>C
NR_148951.1:n.1580G>C
XR_001740256.2:n.1633G>C
XR_002959580.1:n.1633G>C
XR_002959581.1:n.1633G>C
NM_001354727.2:c.1600G>C	NP_001341656.1:p.Val534Leu
NM_004628.5:c.1600G>C MANE Select	NP_004619.3:p.Val534Leu
NR_148950.2:n.1633G>C
NR_148951.2:n.1509G>C
NM_001354726.2:c.1021G>C	NP_001341655.1:p.Val341Leu
NM_001354729.2:c.1582G>C	NP_001341658.1:p.Val528Leu
NM_001354730.2:c.1600G>C	NP_001341659.1:p.Val534Leu