Canonical Allele Identifier: CA376703380

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49459002C>T , CM000672.2:g.49459002C>T	GRCh38
NC_000010.10:g.50667048C>T , CM000672.1:g.50667048C>T	GRCh37
NC_000010.9:g.50337054C>T	NCBI36
NG_009442.1:g.85100G>A , LRG_465:g.85100G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.4295G>A MANE Select	ENSP00000348089.5:p.Arg1432Lys
ENST00000679552.1:n.2504G>A
ENST00000679871.1:n.1441G>A
ENST00000679974.1:n.1344G>A
ENST00000681632.1:n.5698G>A
ENST00000681659.1:c.4136G>A	ENSP00000505631.1:p.Arg1379Lys
ENST00000355832.9:c.4295G>A	ENSP00000348089.5:p.Arg1432Lys
ENST00000623073.3:c.*2591G>A	ENSP00000485650.1:n.*2591G>A
ENST00000623115.3:c.2405G>A	ENSP00000485321.1:p.Arg802Lys
ENST00000624341.3:c.2127G>A
NM_000124.3:c.4295G>A	NP_000115.1:p.Arg1432Lys
XR_945953.1:n.243-12563C>T
NM_001346440.1:c.4295G>A	NP_001333369.1:p.Arg1432Lys
NM_000124.4:c.4295G>A MANE Select	NP_000115.1:p.Arg1432Lys
NM_001346440.2:c.4295G>A	NP_001333369.1:p.Arg1432Lys