Canonical Allele Identifier: CA1908745050

Gene: ERCC6

Linked Data

• dbSNP Id: rs925891924

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49460366A>C , CM000672.2:g.49460366A>C	GRCh38
NC_000010.10:g.50668412A>C , CM000672.1:g.50668412A>C	GRCh37
NC_000010.9:g.50338418A>C	NCBI36
NG_009442.1:g.83736T>G , LRG_465:g.83736T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.4062+7T>G MANE Select	ENSP00000348089.5:n.4062+7T>G
ENST00000679552.1:n.1140T>G
ENST00000679871.1:n.1208+7T>G
ENST00000679974.1:n.1111+7T>G
ENST00000681632.1:n.5465+7T>G
ENST00000681659.1:c.3903+7T>G	ENSP00000505631.1:n.3903+7T>G
ENST00000355832.9:c.4062+7T>G	ENSP00000348089.5:n.4062+7T>G
ENST00000465653.1:n.391T>G
ENST00000623073.3:c.*2358+7T>G	ENSP00000485650.1:n.*2358+7T>G
ENST00000623115.3:c.2172+7T>G	ENSP00000485321.1:n.2172+7T>G
ENST00000624341.3:c.1894+7T>G
NM_000124.3:c.4062+7T>G	NP_000115.1:n.4062+7T>G
XR_945953.1:n.243-11199A>C
NM_001346440.1:c.4062+7T>G	NP_001333369.1:n.4062+7T>G
NM_000124.4:c.4062+7T>G MANE Select	NP_000115.1:n.4062+7T>G
NM_001346440.2:c.4062+7T>G	NP_001333369.1:n.4062+7T>G