Canonical Allele Identifier: CA376715514

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470605C>A , CM000672.2:g.49470605C>A	GRCh38
NC_000010.10:g.50678651C>A , CM000672.1:g.50678651C>A	GRCh37
NC_000010.9:g.50348657C>A	NCBI36
NG_009442.1:g.73497G>T , LRG_465:g.73497G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.3355G>T MANE Select	NP_000115.1:p.Glu1119Ter
ENST00000355832.10:c.3355G>T MANE Select	ENSP00000348089.5:p.Glu1119Ter
NM_000124.3:c.3355G>T	NP_000115.1:p.Glu1119Ter
NM_001346440.1:c.3355G>T	NP_001333369.1:p.Glu1119Ter
NM_001346440.2:c.3355G>T	NP_001333369.1:p.Glu1119Ter
ENST00000355832.9:c.3355G>T	ENSP00000348089.5:p.Glu1119Ter
ENST00000623073.3:c.*1651G>T	ENSP00000485650.1:n.*1651G>T
ENST00000623115.3:c.1465G>T	ENSP00000485321.1:p.Glu489Ter
ENST00000624341.3:c.1187G>T
ENST00000679552.1:n.426G>T
ENST00000679871.1:n.501G>T
ENST00000679974.1:n.404G>T
ENST00000681632.1:n.4758G>T
ENST00000681659.1:c.3196G>T	ENSP00000505631.1:p.Glu1066Ter
XR_945953.1:n.243-960C>A