Canonical Allele Identifier: CA469788835

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678475A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470429A>G , CM000672.2:g.49470429A>G	GRCh38
NC_000010.10:g.50678475A>G , CM000672.1:g.50678475A>G	GRCh37
NC_000010.9:g.50348481A>G	NCBI36
NG_009442.1:g.73673T>C , LRG_465:g.73673T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3531T>C MANE Select	ENSP00000348089.5:p.Asn1177=
ENST00000679552.1:n.602T>C
ENST00000679871.1:n.677T>C
ENST00000679974.1:n.580T>C
ENST00000681632.1:n.4934T>C
ENST00000681659.1:c.3372T>C	ENSP00000505631.1:p.Asn1124=
ENST00000355832.9:c.3531T>C	ENSP00000348089.5:p.Asn1177=
ENST00000623073.3:c.*1827T>C	ENSP00000485650.1:n.*1827T>C
ENST00000623115.3:c.1641T>C	ENSP00000485321.1:p.Asn547=
ENST00000624341.3:c.1363T>C
NM_000124.3:c.3531T>C	NP_000115.1:p.Asn1177=
XR_945953.1:n.243-1136A>G
NM_001346440.1:c.3531T>C	NP_001333369.1:p.Asn1177=
NM_000124.4:c.3531T>C MANE Select	NP_000115.1:p.Asn1177=
NM_001346440.2:c.3531T>C	NP_001333369.1:p.Asn1177=