Canonical Allele Identifier: CA351537806

Gene: XPC

Linked Data

• MyVariant Identifiers: chr3:g.14190140C>A (hg19) ; chr3:g.14148640C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148640C>A , CM000665.2:g.14148640C>A	GRCh38
NC_000003.11:g.14190140C>A , CM000665.1:g.14190140C>A	GRCh37
NC_000003.10:g.14165141C>A	NCBI36
NG_011763.1:g.35033G>T , LRG_472:g.35033G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000285021.12:c.2342G>T MANE Select	ENSP00000285021.8:p.Arg781Leu
ENST00000285021.11:c.2342G>T	ENSP00000285021.7:p.Arg781Leu
ENST00000427795.2:n.207G>T
ENST00000476581.6:c.*1795G>T	ENSP00000424548.1:n.*1795G>T
NM_004628.4:c.2342G>T , LRG_472t1:c.2342G>T	NP_004619.3:p.Arg781Leu
NR_027299.1:n.2322G>T
XM_011534092.1:c.2342G>T	XP_011532394.1:p.Arg781Leu
NM_001354726.1:c.1763G>T	NP_001341655.1:p.Arg588Leu
NM_001354727.1:c.2336G>T	NP_001341656.1:p.Arg779Leu
NM_001354729.1:c.2324G>T	NP_001341658.1:p.Arg775Leu
NM_001354730.1:c.2096G>T	NP_001341659.1:p.Arg699Leu
NR_148950.1:n.2285G>T
NR_148951.1:n.2161G>T
XR_001740256.2:n.2375G>T
XR_002959580.1:n.2375G>T
XR_002959581.1:n.3992G>T
NM_001354727.2:c.2336G>T	NP_001341656.1:p.Arg779Leu
NM_004628.5:c.2342G>T MANE Select	NP_004619.3:p.Arg781Leu
NR_148950.2:n.2214G>T
NR_148951.2:n.2090G>T
NM_001354726.2:c.1763G>T	NP_001341655.1:p.Arg588Leu
NM_001354729.2:c.2324G>T	NP_001341658.1:p.Arg775Leu
NM_001354730.2:c.2096G>T	NP_001341659.1:p.Arg699Leu