Canonical Allele Identifier: CA376712783

Gene: ERCC6

Linked Data

• dbSNP Id: rs1850749119
• MyVariant Identifiers: chr10:g.50678306G>A (hg19) ; chr10:g.49470260G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470260G>A , CM000672.2:g.49470260G>A	GRCh38
NC_000010.10:g.50678306G>A , CM000672.1:g.50678306G>A	GRCh37
NC_000010.9:g.50348312G>A	NCBI36
NG_009442.1:g.73842C>T , LRG_465:g.73842C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3700C>T MANE Select	ENSP00000348089.5:p.Gln1234Ter
ENST00000679552.1:n.771C>T
ENST00000679871.1:n.846C>T
ENST00000679974.1:n.749C>T
ENST00000681632.1:n.5103C>T
ENST00000681659.1:c.3541C>T	ENSP00000505631.1:p.Gln1181Ter
ENST00000355832.9:c.3700C>T	ENSP00000348089.5:p.Gln1234Ter
ENST00000465653.1:n.22C>T
ENST00000623073.3:c.*1996C>T	ENSP00000485650.1:n.*1996C>T
ENST00000623115.3:c.1810C>T	ENSP00000485321.1:p.Gln604Ter
ENST00000624341.3:c.1532C>T
NM_000124.3:c.3700C>T	NP_000115.1:p.Gln1234Ter
XR_945953.1:n.243-1305G>A
NM_001346440.1:c.3700C>T	NP_001333369.1:p.Gln1234Ter
NM_000124.4:c.3700C>T MANE Select	NP_000115.1:p.Gln1234Ter
NM_001346440.2:c.3700C>T	NP_001333369.1:p.Gln1234Ter