Canonical Allele Identifier: CA376708401

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50669506T>A (hg19) ; chr10:g.49461460T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461460T>A , CM000672.2:g.49461460T>A	GRCh38
NC_000010.10:g.50669506T>A , CM000672.1:g.50669506T>A	GRCh37
NC_000010.9:g.50339512T>A	NCBI36
NG_009442.1:g.82642A>T , LRG_465:g.82642A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3875A>T MANE Select	ENSP00000348089.5:p.Asp1292Val
ENST00000679552.1:n.946A>T
ENST00000679871.1:n.1021A>T
ENST00000679974.1:n.924A>T
ENST00000681632.1:n.5278A>T
ENST00000681659.1:c.3716A>T	ENSP00000505631.1:p.Asp1239Val
ENST00000355832.9:c.3875A>T	ENSP00000348089.5:p.Asp1292Val
ENST00000465653.1:n.197A>T
ENST00000623073.3:c.*2171A>T	ENSP00000485650.1:n.*2171A>T
ENST00000623115.3:c.1985A>T	ENSP00000485321.1:p.Asp662Val
ENST00000624341.3:c.1707A>T
NM_000124.3:c.3875A>T	NP_000115.1:p.Asp1292Val
XR_945953.1:n.243-10105T>A
NM_001346440.1:c.3875A>T	NP_001333369.1:p.Asp1292Val
NM_000124.4:c.3875A>T MANE Select	NP_000115.1:p.Asp1292Val
NM_001346440.2:c.3875A>T	NP_001333369.1:p.Asp1292Val