Canonical Allele Identifier: CA535645771

Gene: ERCC3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127257733G>T , CM000664.2:g.127257733G>T	GRCh38
NC_000002.11:g.128015309G>T , CM000664.1:g.128015309G>T	GRCh37
NC_000002.10:g.127731779G>T	NCBI36
NG_007454.1:g.41444C>A , LRG_462:g.41444C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000122.2:c.2218-6C>A MANE Select	NP_000113.1:n.2218-6C>A
ENST00000285398.7:c.2218-6C>A MANE Select	ENSP00000285398.2:n.2218-6C>A
NM_000122.1:c.2218-6C>A , LRG_462t1:c.2218-6C>A	NP_000113.1:n.2218-6C>A
NM_001303416.1:c.2026-6C>A	NP_001290345.1:n.2026-6C>A
NM_001303416.2:c.2026-6C>A	NP_001290345.1:n.2026-6C>A
NM_001303418.1:c.2026-6C>A	NP_001290347.1:n.2026-6C>A
NM_001303418.2:c.2026-6C>A	NP_001290347.1:n.2026-6C>A
ENST00000285398.6:c.2218-6C>A	ENSP00000285398.2:n.2218-6C>A
ENST00000426778.5:c.*2199-6C>A	ENSP00000415335.1:n.*2199-6C>A
ENST00000445889.5:c.*2261-6C>A	ENSP00000390888.1:n.*2261-6C>A
ENST00000491292.5:n.3588-6C>A
ENST00000644317.1:c.*1707-6C>A	ENSP00000494012.1:n.*1707-6C>A
ENST00000645233.1:c.*2430-6C>A	ENSP00000494116.1:n.*2430-6C>A
ENST00000645467.1:c.*990-6C>A	ENSP00000494889.1:n.*990-6C>A
ENST00000645736.1:c.1889-6C>A	ENSP00000494545.1:n.1889-6C>A
ENST00000646042.1:n.2953-6C>A
ENST00000646654.1:c.*1685-6C>A	ENSP00000494526.1:n.*1685-6C>A
ENST00000647169.1:c.2293-6C>A	ENSP00000495619.1:n.2293-6C>A
ENST00000647496.1:c.396-131C>A
XM_011510794.1:c.2236-6C>A	XP_011509096.1:n.2236-6C>A
XM_011510794.2:c.2236-6C>A	XP_011509096.1:n.2236-6C>A
XM_011510795.1:c.1780-6C>A	XP_011509097.1:n.1780-6C>A
XM_017003583.1:c.1762-6C>A	XP_016859072.1:n.1762-6C>A