Canonical Allele Identifier: CA5495934

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49500698T>C , CM000672.2:g.49500698T>C	GRCh38
NC_000010.10:g.50708744T>C , CM000672.1:g.50708744T>C	GRCh37
NC_000010.9:g.50378750T>C	NCBI36
NG_009442.1:g.43404A>G , LRG_465:g.43404A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1527-2A>G MANE Select	ENSP00000348089.5:n.1527-2A>G
ENST00000681632.1:n.1605-2A>G
ENST00000681659.1:c.1526+5186A>G	ENSP00000505631.1:n.1526+5186A>G
ENST00000355832.9:c.1527-2A>G	ENSP00000348089.5:n.1527-2A>G
ENST00000475116.1:n.117-2A>G
ENST00000623073.3:c.-75A>G	ENSP00000485650.1:n.-75A>G
ENST00000623115.3:c.-228-2A>G	ENSP00000485321.1:n.-228-2A>G
ENST00000623318.1:c.-73-2A>G	ENSP00000485423.1:n.-73-2A>G
ENST00000623788.1:n.526-2A>G
NM_000124.3:c.1527-2A>G	NP_000115.1:n.1527-2A>G
NM_001346440.1:c.1527-2A>G	NP_001333369.1:n.1527-2A>G
NM_000124.4:c.1527-2A>G MANE Select	NP_000115.1:n.1527-2A>G
NM_001346440.2:c.1527-2A>G	NP_001333369.1:n.1527-2A>G