Canonical Allele Identifier: CA469600264

Gene: ERCC6

Linked Data

• dbSNP Id: rs1372545947
• MyVariant Identifiers: chr10:g.50669412T>C (hg19) ; chr10:g.49461366T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461366T>C , CM000672.2:g.49461366T>C	GRCh38
NC_000010.10:g.50669412T>C , CM000672.1:g.50669412T>C	GRCh37
NC_000010.9:g.50339418T>C	NCBI36
NG_009442.1:g.82736A>G , LRG_465:g.82736A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3969A>G MANE Select	ENSP00000348089.5:p.Ala1323=
ENST00000679552.1:n.1040A>G
ENST00000679871.1:n.1115A>G
ENST00000679974.1:n.1018A>G
ENST00000681632.1:n.5372A>G
ENST00000681659.1:c.3810A>G	ENSP00000505631.1:p.Ala1270=
ENST00000355832.9:c.3969A>G	ENSP00000348089.5:p.Ala1323=
ENST00000465653.1:n.291A>G
ENST00000623073.3:c.*2265A>G	ENSP00000485650.1:n.*2265A>G
ENST00000623115.3:c.2079A>G	ENSP00000485321.1:p.Ala693=
ENST00000624341.3:c.1801A>G
NM_000124.3:c.3969A>G	NP_000115.1:p.Ala1323=
XR_945953.1:n.243-10199T>C
NM_001346440.1:c.3969A>G	NP_001333369.1:p.Ala1323=
NM_000124.4:c.3969A>G MANE Select	NP_000115.1:p.Ala1323=
NM_001346440.2:c.3969A>G	NP_001333369.1:p.Ala1323=