Canonical Allele Identifier: CA2838239640

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472483G>T , CM000672.2:g.49472483G>T	GRCh38
NC_000010.10:g.50680529G>T , CM000672.1:g.50680529G>T	GRCh37
NC_000010.9:g.50350535G>T	NCBI36
NG_009442.1:g.71619C>A , LRG_465:g.71619C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2830-13C>A MANE Select	ENSP00000348089.5:n.2830-13C>A
ENST00000681632.1:n.4220C>A
ENST00000681659.1:c.2671-13C>A	ENSP00000505631.1:n.2671-13C>A
ENST00000355832.9:c.2830-13C>A	ENSP00000348089.5:n.2830-13C>A
ENST00000623073.3:c.*1126-13C>A	ENSP00000485650.1:n.*1126-13C>A
ENST00000623115.3:c.940-13C>A	ENSP00000485321.1:n.940-13C>A
ENST00000624341.3:c.662-13C>A
NM_000124.3:c.2830-13C>A	NP_000115.1:n.2830-13C>A
XR_945953.1:n.690-220G>T
NM_001346440.1:c.2830-13C>A	NP_001333369.1:n.2830-13C>A
NM_000124.4:c.2830-13C>A MANE Select	NP_000115.1:n.2830-13C>A
NM_001346440.2:c.2830-13C>A	NP_001333369.1:n.2830-13C>A