Canonical Allele Identifier: CA5495578

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49473481T>C , CM000672.2:g.49473481T>C	GRCh38
NC_000010.10:g.50681527T>C , CM000672.1:g.50681527T>C	GRCh37
NC_000010.9:g.50351533T>C	NCBI36
NG_009442.1:g.70621A>G , LRG_465:g.70621A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2705A>G MANE Select	ENSP00000348089.5:p.Asn902Ser
ENST00000681632.1:n.3222A>G
ENST00000681659.1:c.2546A>G	ENSP00000505631.1:p.Asn849Ser
ENST00000355832.9:c.2705A>G	ENSP00000348089.5:p.Asn902Ser
ENST00000623073.3:c.*1001A>G	ENSP00000485650.1:n.*1001A>G
ENST00000623115.3:c.815A>G	ENSP00000485321.1:p.Asn272Ser
ENST00000624341.3:c.537A>G
NM_000124.3:c.2705A>G	NP_000115.1:p.Asn902Ser
NM_001346440.1:c.2705A>G	NP_001333369.1:p.Asn902Ser
NM_000124.4:c.2705A>G MANE Select	NP_000115.1:p.Asn902Ser
NM_001346440.2:c.2705A>G	NP_001333369.1:p.Asn902Ser