Canonical Allele Identifier: CA2843129364

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472350C>A , CM000672.2:g.49472350C>A	GRCh38
NC_000010.10:g.50680396C>A , CM000672.1:g.50680396C>A	GRCh37
NC_000010.9:g.50350402C>A	NCBI36
NG_009442.1:g.71752G>T , LRG_465:g.71752G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2924+26G>T MANE Select	ENSP00000348089.5:n.2924+26G>T
ENST00000681632.1:n.4327+26G>T
ENST00000681659.1:c.2765+26G>T	ENSP00000505631.1:n.2765+26G>T
ENST00000355832.9:c.2924+26G>T	ENSP00000348089.5:n.2924+26G>T
ENST00000623073.3:c.*1220+26G>T	ENSP00000485650.1:n.*1220+26G>T
ENST00000623115.3:c.1034+26G>T	ENSP00000485321.1:n.1034+26G>T
ENST00000624341.3:c.756+26G>T
NM_000124.3:c.2924+26G>T	NP_000115.1:n.2924+26G>T
XR_945953.1:n.689+339C>A
NM_001346440.1:c.2924+26G>T	NP_001333369.1:n.2924+26G>T
NM_000124.4:c.2924+26G>T MANE Select	NP_000115.1:n.2924+26G>T
NM_001346440.2:c.2924+26G>T	NP_001333369.1:n.2924+26G>T