Canonical Allele Identifier: CA206584847

Gene: ERCC6

Linked Data

• dbSNP Id: rs866402704
• MyVariant Identifiers: chr10:g.50678741C>T (hg19) ; chr10:g.49470695C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470695C>T , CM000672.2:g.49470695C>T	GRCh38
NC_000010.10:g.50678741C>T , CM000672.1:g.50678741C>T	GRCh37
NC_000010.9:g.50348747C>T	NCBI36
NG_009442.1:g.73407G>A , LRG_465:g.73407G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3265G>A MANE Select	ENSP00000348089.5:p.Asp1089Asn
ENST00000679552.1:n.336G>A
ENST00000679871.1:n.411G>A
ENST00000679974.1:n.314G>A
ENST00000681632.1:n.4668G>A
ENST00000681659.1:c.3106G>A	ENSP00000505631.1:p.Asp1036Asn
ENST00000355832.9:c.3265G>A	ENSP00000348089.5:p.Asp1089Asn
ENST00000623073.3:c.*1561G>A	ENSP00000485650.1:n.*1561G>A
ENST00000623115.3:c.1375G>A	ENSP00000485321.1:p.Asp459Asn
ENST00000624341.3:c.1097G>A
NM_000124.3:c.3265G>A	NP_000115.1:p.Asp1089Asn
XR_945953.1:n.243-870C>T
NM_001346440.1:c.3265G>A	NP_001333369.1:p.Asp1089Asn
NM_000124.4:c.3265G>A MANE Select	NP_000115.1:p.Asp1089Asn
NM_001346440.2:c.3265G>A	NP_001333369.1:p.Asp1089Asn