Canonical Allele Identifier: CA2839770146

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472364G>A , CM000672.2:g.49472364G>A	GRCh38
NC_000010.10:g.50680410G>A , CM000672.1:g.50680410G>A	GRCh37
NC_000010.9:g.50350416G>A	NCBI36
NG_009442.1:g.71738C>T , LRG_465:g.71738C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2924+12C>T MANE Select	ENSP00000348089.5:n.2924+12C>T
ENST00000681632.1:n.4327+12C>T
ENST00000681659.1:c.2765+12C>T	ENSP00000505631.1:n.2765+12C>T
ENST00000355832.9:c.2924+12C>T	ENSP00000348089.5:n.2924+12C>T
ENST00000623073.3:c.*1220+12C>T	ENSP00000485650.1:n.*1220+12C>T
ENST00000623115.3:c.1034+12C>T	ENSP00000485321.1:n.1034+12C>T
ENST00000624341.3:c.756+12C>T
NM_000124.3:c.2924+12C>T	NP_000115.1:n.2924+12C>T
XR_945953.1:n.690-339G>A
NM_001346440.1:c.2924+12C>T	NP_001333369.1:n.2924+12C>T
NM_000124.4:c.2924+12C>T MANE Select	NP_000115.1:n.2924+12C>T
NM_001346440.2:c.2924+12C>T	NP_001333369.1:n.2924+12C>T