Canonical Allele Identifier: CA2574544751

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49459244G>A , CM000672.2:g.49459244G>A	GRCh38
NC_000010.10:g.50667290G>A , CM000672.1:g.50667290G>A	GRCh37
NC_000010.9:g.50337296G>A	NCBI36
NG_009442.1:g.84858C>T , LRG_465:g.84858C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.4063-10C>T MANE Select	ENSP00000348089.5:n.4063-10C>T
ENST00000679552.1:n.2262C>T
ENST00000679871.1:n.1209-10C>T
ENST00000679974.1:n.1112-10C>T
ENST00000681632.1:n.5466-10C>T
ENST00000681659.1:c.3904-10C>T	ENSP00000505631.1:n.3904-10C>T
ENST00000355832.9:c.4063-10C>T	ENSP00000348089.5:n.4063-10C>T
ENST00000623073.3:c.*2359-10C>T	ENSP00000485650.1:n.*2359-10C>T
ENST00000623115.3:c.2173-10C>T	ENSP00000485321.1:n.2173-10C>T
ENST00000624341.3:c.1895-10C>T
NM_000124.3:c.4063-10C>T	NP_000115.1:n.4063-10C>T
XR_945953.1:n.243-12321G>A
NM_001346440.1:c.4063-10C>T	NP_001333369.1:n.4063-10C>T
NM_000124.4:c.4063-10C>T MANE Select	NP_000115.1:n.4063-10C>T
NM_001346440.2:c.4063-10C>T	NP_001333369.1:n.4063-10C>T