Canonical Allele Identifier: CA469604531

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50701259T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493213T>G , CM000672.2:g.49493213T>G	GRCh38
NC_000010.10:g.50701259T>G , CM000672.1:g.50701259T>G	GRCh37
NC_000010.9:g.50371265T>G	NCBI36
NG_009442.1:g.50889A>C , LRG_465:g.50889A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1725A>C MANE Select	ENSP00000348089.5:p.Thr575=
ENST00000681632.1:n.1803A>C
ENST00000681659.1:c.1566A>C	ENSP00000505631.1:p.Thr522=
ENST00000355832.9:c.1725A>C	ENSP00000348089.5:p.Thr575=
ENST00000475116.1:n.275+7325A>C
ENST00000623073.3:c.126A>C	ENSP00000485650.1:p.Thr42=
ENST00000623115.3:c.-70+7325A>C	ENSP00000485321.1:n.-70+7325A>C
ENST00000623318.1:c.126A>C	ENSP00000485423.1:p.Thr42=
NM_000124.3:c.1725A>C	NP_000115.1:p.Thr575=
NM_001346440.1:c.1725A>C	NP_001333369.1:p.Thr575=
NM_000124.4:c.1725A>C MANE Select	NP_000115.1:p.Thr575=
NM_001346440.2:c.1725A>C	NP_001333369.1:p.Thr575=