Canonical Allele Identifier: CA469604228

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2778790
• ClinVar RCV Id: RCV003661710
• MyVariant Identifiers: chr10:g.50691536A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49483490A>G , CM000672.2:g.49483490A>G	GRCh38
NC_000010.10:g.50691536A>G , CM000672.1:g.50691536A>G	GRCh37
NC_000010.9:g.50361542A>G	NCBI36
NG_009442.1:g.60612T>C , LRG_465:g.60612T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1848T>C MANE Select	ENSP00000348089.5:p.His616=
ENST00000681632.1:n.1926T>C
ENST00000681659.1:c.1689T>C	ENSP00000505631.1:p.His563=
ENST00000355832.9:c.1848T>C	ENSP00000348089.5:p.His616=
ENST00000475116.1:n.302T>C
ENST00000623073.3:c.*240T>C	ENSP00000485650.1:n.*240T>C
ENST00000623115.3:c.-43T>C	ENSP00000485321.1:n.-43T>C
ENST00000623318.1:c.249T>C	ENSP00000485423.1:p.His83=
NM_000124.3:c.1848T>C	NP_000115.1:p.His616=
NM_001346440.1:c.1848T>C	NP_001333369.1:p.His616=
NM_000124.4:c.1848T>C MANE Select	NP_000115.1:p.His616=
NM_001346440.2:c.1848T>C	NP_001333369.1:p.His616=