Canonical Allele Identifier: CA206612869

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49456086C>T , CM000672.2:g.49456086C>T	GRCh38
NC_000010.10:g.50664132C>T , CM000672.1:g.50664132C>T	GRCh37
NC_000010.9:g.50334138C>T	NCBI36
NG_009442.1:g.88016G>A , LRG_465:g.88016G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.*2729G>A MANE Select	ENSP00000348089.5:n.*2729G>A
ENST00000679871.1:n.4357G>A
ENST00000679974.1:n.4260G>A
ENST00000681632.1:n.8614G>A
ENST00000681659.1:c.*2729G>A	ENSP00000505631.1:n.*2729G>A
ENST00000355832.9:c.*2729G>A	ENSP00000348089.5:n.*2729G>A
ENST00000624341.3:c.5043G>A
NM_000124.3:c.*2729G>A	NP_000115.1:n.*2729G>A
XR_945953.1:n.243-15479C>T
NM_001346440.1:c.*2729G>A	NP_001333369.1:n.*2729G>A
NM_000124.4:c.*2729G>A MANE Select	NP_000115.1:n.*2729G>A
NM_001346440.2:c.*2729G>A	NP_001333369.1:n.*2729G>A