Canonical Allele Identifier: CA432813656

Gene: XPC

Linked Data

• gnomAD v4: 3-14148672-G-A
• MyVariant Identifiers: chr3:g.14190172G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148672G>A , CM000665.2:g.14148672G>A	GRCh38
NC_000003.11:g.14190172G>A , CM000665.1:g.14190172G>A	GRCh37
NC_000003.10:g.14165173G>A	NCBI36
NG_011763.1:g.35001C>T , LRG_472:g.35001C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2310C>T MANE Select	ENSP00000285021.8:p.Gly770=
ENST00000285021.11:c.2310C>T	ENSP00000285021.7:p.Gly770=
ENST00000427795.2:n.175C>T
ENST00000476581.6:c.*1763C>T	ENSP00000424548.1:n.*1763C>T
NM_004628.4:c.2310C>T , LRG_472t1:c.2310C>T	NP_004619.3:p.Gly770=
NR_027299.1:n.2290C>T
XM_011534092.1:c.2310C>T	XP_011532394.1:p.Gly770=
NM_001354726.1:c.1731C>T	NP_001341655.1:p.Gly577=
NM_001354727.1:c.2304C>T	NP_001341656.1:p.Gly768=
NM_001354729.1:c.2292C>T	NP_001341658.1:p.Gly764=
NM_001354730.1:c.2064C>T	NP_001341659.1:p.Gly688=
NR_148950.1:n.2253C>T
NR_148951.1:n.2129C>T
XR_001740256.2:n.2343C>T
XR_002959580.1:n.2343C>T
XR_002959581.1:n.3960C>T
NM_001354727.2:c.2304C>T	NP_001341656.1:p.Gly768=
NM_004628.5:c.2310C>T MANE Select	NP_004619.3:p.Gly770=
NR_148950.2:n.2182C>T
NR_148951.2:n.2058C>T
NM_001354726.2:c.1731C>T	NP_001341655.1:p.Gly577=
NM_001354729.2:c.2292C>T	NP_001341658.1:p.Gly764=
NM_001354730.2:c.2064C>T	NP_001341659.1:p.Gly688=