Canonical Allele Identifier: CA206613262

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49456784T>C , CM000672.2:g.49456784T>C	GRCh38
NC_000010.10:g.50664830T>C , CM000672.1:g.50664830T>C	GRCh37
NC_000010.9:g.50334836T>C	NCBI36
NG_009442.1:g.87318A>G , LRG_465:g.87318A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.*2031A>G MANE Select	ENSP00000348089.5:n.*2031A>G
ENST00000679552.1:n.4722A>G
ENST00000679871.1:n.3659A>G
ENST00000679974.1:n.3562A>G
ENST00000681632.1:n.7916A>G
ENST00000681659.1:c.*2031A>G	ENSP00000505631.1:n.*2031A>G
ENST00000355832.9:c.*2031A>G	ENSP00000348089.5:n.*2031A>G
ENST00000623073.3:c.*4809A>G	ENSP00000485650.1:n.*4809A>G
ENST00000624341.3:c.4345A>G
NM_000124.3:c.*2031A>G	NP_000115.1:n.*2031A>G
XR_945953.1:n.243-14781T>C
NM_001346440.1:c.*2031A>G	NP_001333369.1:n.*2031A>G
NM_000124.4:c.*2031A>G MANE Select	NP_000115.1:n.*2031A>G
NM_001346440.2:c.*2031A>G	NP_001333369.1:n.*2031A>G