Canonical Allele Identifier: CA376708188

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49460453T>C , CM000672.2:g.49460453T>C	GRCh38
NC_000010.10:g.50668499T>C , CM000672.1:g.50668499T>C	GRCh37
NC_000010.9:g.50338505T>C	NCBI36
NG_009442.1:g.83649A>G , LRG_465:g.83649A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.3984-2A>G MANE Select	NP_000115.1:n.3984-2A>G
ENST00000355832.10:c.3984-2A>G MANE Select	ENSP00000348089.5:n.3984-2A>G
NM_000124.3:c.3984-2A>G	NP_000115.1:n.3984-2A>G
NM_001346440.1:c.3984-2A>G	NP_001333369.1:n.3984-2A>G
NM_001346440.2:c.3984-2A>G	NP_001333369.1:n.3984-2A>G
ENST00000355832.9:c.3984-2A>G	ENSP00000348089.5:n.3984-2A>G
ENST00000465653.1:n.306-2A>G
ENST00000623073.3:c.*2280-2A>G	ENSP00000485650.1:n.*2280-2A>G
ENST00000623115.3:c.2094-2A>G	ENSP00000485321.1:n.2094-2A>G
ENST00000624341.3:c.1816-2A>G
ENST00000679552.1:n.1055-2A>G
ENST00000679871.1:n.1130-2A>G
ENST00000679974.1:n.1033-2A>G
ENST00000681632.1:n.5387-2A>G
ENST00000681659.1:c.3825-2A>G	ENSP00000505631.1:n.3825-2A>G
XR_945953.1:n.243-11112T>C