Canonical Allele Identifier: CA5495697

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49476312T>C , CM000672.2:g.49476312T>C	GRCh38
NC_000010.10:g.50684358T>C , CM000672.1:g.50684358T>C	GRCh37
NC_000010.9:g.50354364T>C	NCBI36
NG_009442.1:g.67790A>G , LRG_465:g.67790A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.2287-2A>G MANE Select	NP_000115.1:n.2287-2A>G
ENST00000355832.10:c.2287-2A>G MANE Select	ENSP00000348089.5:n.2287-2A>G
NM_000124.3:c.2287-2A>G	NP_000115.1:n.2287-2A>G
NM_001346440.1:c.2287-2A>G	NP_001333369.1:n.2287-2A>G
NM_001346440.2:c.2287-2A>G	NP_001333369.1:n.2287-2A>G
ENST00000355832.9:c.2287-2A>G	ENSP00000348089.5:n.2287-2A>G
ENST00000623073.3:c.*678+2042A>G	ENSP00000485650.1:n.*678+2042A>G
ENST00000623115.3:c.397-2A>G	ENSP00000485321.1:n.397-2A>G
ENST00000681632.1:n.2365-2A>G
ENST00000681659.1:c.2128-2A>G	ENSP00000505631.1:n.2128-2A>G