Canonical Allele Identifier: CA376712921

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678329A>T (hg19) ; chr10:g.49470283A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470283A>T , CM000672.2:g.49470283A>T	GRCh38
NC_000010.10:g.50678329A>T , CM000672.1:g.50678329A>T	GRCh37
NC_000010.9:g.50348335A>T	NCBI36
NG_009442.1:g.73819T>A , LRG_465:g.73819T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3677T>A MANE Select	ENSP00000348089.5:p.Val1226Glu
ENST00000679552.1:n.748T>A
ENST00000679871.1:n.823T>A
ENST00000679974.1:n.726T>A
ENST00000681632.1:n.5080T>A
ENST00000681659.1:c.3518T>A	ENSP00000505631.1:p.Val1173Glu
ENST00000355832.9:c.3677T>A	ENSP00000348089.5:p.Val1226Glu
ENST00000623073.3:c.*1973T>A	ENSP00000485650.1:n.*1973T>A
ENST00000623115.3:c.1787T>A	ENSP00000485321.1:p.Val596Glu
ENST00000624341.3:c.1509T>A
NM_000124.3:c.3677T>A	NP_000115.1:p.Val1226Glu
XR_945953.1:n.243-1282A>T
NM_001346440.1:c.3677T>A	NP_001333369.1:p.Val1226Glu
NM_000124.4:c.3677T>A MANE Select	NP_000115.1:p.Val1226Glu
NM_001346440.2:c.3677T>A	NP_001333369.1:p.Val1226Glu