Canonical Allele Identifier: CA206613989

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49458002G>A , CM000672.2:g.49458002G>A	GRCh38
NC_000010.10:g.50666048G>A , CM000672.1:g.50666048G>A	GRCh37
NC_000010.9:g.50336054G>A	NCBI36
NG_009442.1:g.86100C>T , LRG_465:g.86100C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.*813C>T MANE Select	NP_000115.1:n.*813C>T
ENST00000355832.10:c.*813C>T MANE Select	ENSP00000348089.5:n.*813C>T
NM_000124.3:c.*813C>T	NP_000115.1:n.*813C>T
NM_001346440.1:c.*813C>T	NP_001333369.1:n.*813C>T
NM_001346440.2:c.*813C>T	NP_001333369.1:n.*813C>T
ENST00000355832.9:c.*813C>T	ENSP00000348089.5:n.*813C>T
ENST00000623073.3:c.*3591C>T	ENSP00000485650.1:n.*3591C>T
ENST00000624341.3:c.3127C>T
ENST00000679552.1:n.3504C>T
ENST00000679871.1:n.2441C>T
ENST00000679974.1:n.2344C>T
ENST00000681632.1:n.6698C>T
ENST00000681659.1:c.*813C>T	ENSP00000505631.1:n.*813C>T
XR_945953.1:n.243-13563G>A