Canonical Allele Identifier: CA351543555

Gene: XPC LSM3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14178464A>C , CM000665.2:g.14178464A>C	GRCh38
NC_000003.11:g.14219964A>C , CM000665.1:g.14219964A>C	GRCh37
NC_000003.10:g.14194968A>C	NCBI36
NG_011763.1:g.5209T>G , LRG_472:g.5209T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004628.5:c.103+2T>G (XPC) MANE Select	NP_004619.3:n.103+2T>G
ENST00000285021.12:c.103+2T>G (XPC) MANE Select	ENSP00000285021.8:n.103+2T>G
NM_001354726.1:c.-353+2T>G (XPC)	NP_001341655.1:n.-353+2T>G
NM_001354726.2:c.-353+2T>G (XPC)	NP_001341655.1:n.-353+2T>G
NM_001354727.1:c.103+2T>G (XPC)	NP_001341656.1:n.103+2T>G
NM_001354727.2:c.103+2T>G (XPC)	NP_001341656.1:n.103+2T>G
NM_001354729.1:c.85+20T>G (XPC)	NP_001341658.1:n.85+20T>G
NM_001354729.2:c.85+20T>G (XPC)	NP_001341658.1:n.85+20T>G
NM_001354730.1:c.103+2T>G (XPC)	NP_001341659.1:n.103+2T>G
NM_001354730.2:c.103+2T>G (XPC)	NP_001341659.1:n.103+2T>G
NM_004628.4:c.103+2T>G , LRG_472t1:c.103+2T>G (XPC)	NP_004619.3:n.103+2T>G
NR_027299.1:n.207+2T>G (XPC)
NR_148950.1:n.207+2T>G (XPC)
NR_148950.2:n.136+2T>G (XPC)
NR_148951.1:n.207+2T>G (XPC)
NR_148951.2:n.136+2T>G (XPC)
ENST00000285021.11:c.103+2T>G (XPC)	ENSP00000285021.7:n.103+2T>G
ENST00000306024.3:c.-397A>C (LSM3)	ENSP00000302160.3:n.-397A>C
ENST00000476581.6:c.103+2T>G (XPC)	ENSP00000424548.1:n.103+2T>G
ENST00000511155.1:c.85+20T>G (XPC)	ENSP00000423867.1:n.85+20T>G
XM_011534092.1:c.103+2T>G (XPC)	XP_011532394.1:n.103+2T>G
XM_011534093.1:c.103+2T>G (XPC)	XP_011532395.1:n.103+2T>G
XR_001740256.2:n.136+2T>G (XPC)
XR_002959580.1:n.136+2T>G (XPC)
XR_002959581.1:n.136+2T>G (XPC)