Canonical Allele Identifier: CA351537657

Gene: XPC

Linked Data

• dbSNP Id: rs1404541687
• gnomAD v2: 3-14190069-G-A
• MyVariant Identifiers: chr3:g.14190069G>A (hg19) ; chr3:g.14148569G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148569G>A , CM000665.2:g.14148569G>A	GRCh38
NC_000003.11:g.14190069G>A , CM000665.1:g.14190069G>A	GRCh37
NC_000003.10:g.14165070G>A	NCBI36
NG_011763.1:g.35104C>T , LRG_472:g.35104C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2413C>T MANE Select	ENSP00000285021.8:p.His805Tyr
ENST00000285021.11:c.2413C>T	ENSP00000285021.7:p.His805Tyr
ENST00000427795.2:n.278C>T
ENST00000476581.6:c.*1866C>T	ENSP00000424548.1:n.*1866C>T
NM_004628.4:c.2413C>T , LRG_472t1:c.2413C>T	NP_004619.3:p.His805Tyr
NR_027299.1:n.2393C>T
XM_011534092.1:c.2413C>T	XP_011532394.1:p.His805Tyr
NM_001354726.1:c.1834C>T	NP_001341655.1:p.His612Tyr
NM_001354727.1:c.2407C>T	NP_001341656.1:p.His803Tyr
NM_001354729.1:c.2395C>T	NP_001341658.1:p.His799Tyr
NM_001354730.1:c.2167C>T	NP_001341659.1:p.His723Tyr
NR_148950.1:n.2356C>T
NR_148951.1:n.2232C>T
XR_001740256.2:n.2446C>T
XR_002959580.1:n.2446C>T
XR_002959581.1:n.4063C>T
NM_001354727.2:c.2407C>T	NP_001341656.1:p.His803Tyr
NM_004628.5:c.2413C>T MANE Select	NP_004619.3:p.His805Tyr
NR_148950.2:n.2285C>T
NR_148951.2:n.2161C>T
NM_001354726.2:c.1834C>T	NP_001341655.1:p.His612Tyr
NM_001354729.2:c.2395C>T	NP_001341658.1:p.His799Tyr
NM_001354730.2:c.2167C>T	NP_001341659.1:p.His723Tyr