Canonical Allele Identifier: CA69742053

Gene: XPC

Linked Data

• dbSNP Id: rs1037436931
• gnomAD v2: 3-14189933-G-A
• gnomAD v3: 3-14148433-G-A
• gnomAD v4: 3-14148433-G-A
• MyVariant Identifiers: chr3:g.14189933G>A (hg19) ; chr3:g.14148433G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148433G>A , CM000665.2:g.14148433G>A	GRCh38
NC_000003.11:g.14189933G>A , CM000665.1:g.14189933G>A	GRCh37
NC_000003.10:g.14164934G>A	NCBI36
NG_011763.1:g.35240C>T , LRG_472:g.35240C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2420+129C>T MANE Select	ENSP00000285021.8:n.2420+129C>T
ENST00000285021.11:c.2420+129C>T	ENSP00000285021.7:n.2420+129C>T
ENST00000427795.2:n.285+129C>T
ENST00000476581.6:c.*1873+129C>T	ENSP00000424548.1:n.*1873+129C>T
NM_004628.4:c.2420+129C>T , LRG_472t1:c.2420+129C>T	NP_004619.3:n.2420+129C>T
NR_027299.1:n.2400+129C>T
XM_011534092.1:c.2420+129C>T	XP_011532394.1:n.2420+129C>T
NM_001354726.1:c.1841+129C>T	NP_001341655.1:n.1841+129C>T
NM_001354727.1:c.2414+129C>T	NP_001341656.1:n.2414+129C>T
NM_001354729.1:c.2402+129C>T	NP_001341658.1:n.2402+129C>T
NM_001354730.1:c.2174+129C>T	NP_001341659.1:n.2174+129C>T
NR_148950.1:n.2363+129C>T
NR_148951.1:n.2239+129C>T
XR_001740256.2:n.2453+129C>T
XR_002959580.1:n.2453+129C>T
XR_002959581.1:n.4070+129C>T
NM_001354727.2:c.2414+129C>T	NP_001341656.1:n.2414+129C>T
NM_004628.5:c.2420+129C>T MANE Select	NP_004619.3:n.2420+129C>T
NR_148950.2:n.2292+129C>T
NR_148951.2:n.2168+129C>T
NM_001354726.2:c.1841+129C>T	NP_001341655.1:n.1841+129C>T
NM_001354729.2:c.2402+129C>T	NP_001341658.1:n.2402+129C>T
NM_001354730.2:c.2174+129C>T	NP_001341659.1:n.2174+129C>T