Canonical Allele Identifier: CA469600115

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50668419C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49460373C>T , CM000672.2:g.49460373C>T	GRCh38
NC_000010.10:g.50668419C>T , CM000672.1:g.50668419C>T	GRCh37
NC_000010.9:g.50338425C>T	NCBI36
NG_009442.1:g.83729G>A , LRG_465:g.83729G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.4062G>A MANE Select	ENSP00000348089.5:p.Gln1354=
ENST00000679552.1:n.1133G>A
ENST00000679871.1:n.1208G>A
ENST00000679974.1:n.1111G>A
ENST00000681632.1:n.5465G>A
ENST00000681659.1:c.3903G>A	ENSP00000505631.1:p.Gln1301=
ENST00000355832.9:c.4062G>A	ENSP00000348089.5:p.Gln1354=
ENST00000465653.1:n.384G>A
ENST00000623073.3:c.*2358G>A	ENSP00000485650.1:n.*2358G>A
ENST00000623115.3:c.2172G>A	ENSP00000485321.1:p.Gln724=
ENST00000624341.3:c.1894G>A
NM_000124.3:c.4062G>A	NP_000115.1:p.Gln1354=
XR_945953.1:n.243-11192C>T
NM_001346440.1:c.4062G>A	NP_001333369.1:p.Gln1354=
NM_000124.4:c.4062G>A MANE Select	NP_000115.1:p.Gln1354=
NM_001346440.2:c.4062G>A	NP_001333369.1:p.Gln1354=