Canonical Allele Identifier: CA2577516802

Gene: XPC

Linked Data

• gnomAD v4: 3-14157998-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14157998G>A , CM000665.2:g.14157998G>A	GRCh38
NC_000003.11:g.14199498G>A , CM000665.1:g.14199498G>A	GRCh37
NC_000003.10:g.14174500G>A	NCBI36
NG_011763.1:g.25675C>T , LRG_472:g.25675C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.1872+13C>T MANE Select	ENSP00000285021.8:n.1872+13C>T
ENST00000285021.11:c.1872+13C>T	ENSP00000285021.7:n.1872+13C>T
ENST00000476581.6:c.*1325+13C>T	ENSP00000424548.1:n.*1325+13C>T
NM_004628.4:c.1872+13C>T , LRG_472t1:c.1872+13C>T	NP_004619.3:n.1872+13C>T
NR_027299.1:n.1852+13C>T
XM_011534092.1:c.1872+13C>T	XP_011532394.1:n.1872+13C>T
XM_011534093.1:c.1872+13C>T	XP_011532395.1:n.1872+13C>T
NM_001354726.1:c.1293+13C>T	NP_001341655.1:n.1293+13C>T
NM_001354727.1:c.1872+13C>T	NP_001341656.1:n.1872+13C>T
NM_001354729.1:c.1854+13C>T	NP_001341658.1:n.1854+13C>T
NM_001354730.1:c.1626+259C>T	NP_001341659.1:n.1626+259C>T
NR_148950.1:n.1976+13C>T
NR_148951.1:n.1852+13C>T
XR_001740256.2:n.1905+13C>T
XR_002959580.1:n.1905+13C>T
XR_002959581.1:n.1905+13C>T
NM_001354727.2:c.1872+13C>T	NP_001341656.1:n.1872+13C>T
NM_004628.5:c.1872+13C>T MANE Select	NP_004619.3:n.1872+13C>T
NR_148950.2:n.1905+13C>T
NR_148951.2:n.1781+13C>T
NM_001354726.2:c.1293+13C>T	NP_001341655.1:n.1293+13C>T
NM_001354729.2:c.1854+13C>T	NP_001341658.1:n.1854+13C>T
NM_001354730.2:c.1626+259C>T	NP_001341659.1:n.1626+259C>T