Canonical Allele Identifier: CA5495761

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482713C>A , CM000672.2:g.49482713C>A	GRCh38
NC_000010.10:g.50690759C>A , CM000672.1:g.50690759C>A	GRCh37
NC_000010.9:g.50360765C>A	NCBI36
NG_009442.1:g.61389G>T , LRG_465:g.61389G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.2143G>T MANE Select	NP_000115.1:p.Gly715Ter
ENST00000355832.10:c.2143G>T MANE Select	ENSP00000348089.5:p.Gly715Ter
NM_000124.3:c.2143G>T	NP_000115.1:p.Gly715Ter
NM_001346440.1:c.2143G>T	NP_001333369.1:p.Gly715Ter
NM_001346440.2:c.2143G>T	NP_001333369.1:p.Gly715Ter
ENST00000355832.9:c.2143G>T	ENSP00000348089.5:p.Gly715Ter
ENST00000623073.3:c.*535G>T	ENSP00000485650.1:n.*535G>T
ENST00000623115.3:c.253G>T	ENSP00000485321.1:p.Gly85Ter
ENST00000681632.1:n.2221G>T
ENST00000681659.1:c.1984G>T	ENSP00000505631.1:p.Gly662Ter