Canonical Allele Identifier: CA432569694

Gene: XPC

Linked Data

• gnomAD v4: 3-14158083-A-G
• MyVariant Identifiers: chr3:g.14199583A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14158083A>G , CM000665.2:g.14158083A>G	GRCh38
NC_000003.11:g.14199583A>G , CM000665.1:g.14199583A>G	GRCh37
NC_000003.10:g.14174585A>G	NCBI36
NG_011763.1:g.25590T>C , LRG_472:g.25590T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.1800T>C MANE Select	ENSP00000285021.8:p.Ala600=
ENST00000285021.11:c.1800T>C	ENSP00000285021.7:p.Ala600=
ENST00000476581.6:c.*1253T>C	ENSP00000424548.1:n.*1253T>C
NM_004628.4:c.1800T>C , LRG_472t1:c.1800T>C	NP_004619.3:p.Ala600=
NR_027299.1:n.1780T>C
XM_011534092.1:c.1800T>C	XP_011532394.1:p.Ala600=
XM_011534093.1:c.1800T>C	XP_011532395.1:p.Ala600=
NM_001354726.1:c.1221T>C	NP_001341655.1:p.Ala407=
NM_001354727.1:c.1800T>C	NP_001341656.1:p.Ala600=
NM_001354729.1:c.1782T>C	NP_001341658.1:p.Ala594=
NM_001354730.1:c.1626+174T>C	NP_001341659.1:n.1626+174T>C
NR_148950.1:n.1904T>C
NR_148951.1:n.1780T>C
XR_001740256.2:n.1833T>C
XR_002959580.1:n.1833T>C
XR_002959581.1:n.1833T>C
NM_001354727.2:c.1800T>C	NP_001341656.1:p.Ala600=
NM_004628.5:c.1800T>C MANE Select	NP_004619.3:p.Ala600=
NR_148950.2:n.1833T>C
NR_148951.2:n.1709T>C
NM_001354726.2:c.1221T>C	NP_001341655.1:p.Ala407=
NM_001354729.2:c.1782T>C	NP_001341658.1:p.Ala594=
NM_001354730.2:c.1626+174T>C	NP_001341659.1:n.1626+174T>C