Canonical Allele Identifier: CA469604720

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50708721C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49500675C>T , CM000672.2:g.49500675C>T	GRCh38
NC_000010.10:g.50708721C>T , CM000672.1:g.50708721C>T	GRCh37
NC_000010.9:g.50378727C>T	NCBI36
NG_009442.1:g.43427G>A , LRG_465:g.43427G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1548G>A MANE Select	ENSP00000348089.5:p.Arg516=
ENST00000681632.1:n.1626G>A
ENST00000681659.1:c.1526+5209G>A	ENSP00000505631.1:n.1526+5209G>A
ENST00000355832.9:c.1548G>A	ENSP00000348089.5:p.Arg516=
ENST00000475116.1:n.138G>A
ENST00000623073.3:c.-52G>A	ENSP00000485650.1:n.-52G>A
ENST00000623115.3:c.-207G>A	ENSP00000485321.1:n.-207G>A
ENST00000623318.1:c.-52G>A	ENSP00000485423.1:n.-52G>A
ENST00000623788.1:n.547G>A
NM_000124.3:c.1548G>A	NP_000115.1:p.Arg516=
NM_001346440.1:c.1548G>A	NP_001333369.1:p.Arg516=
NM_000124.4:c.1548G>A MANE Select	NP_000115.1:p.Arg516=
NM_001346440.2:c.1548G>A	NP_001333369.1:p.Arg516=