Canonical Allele Identifier: CA376708455

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50669526T>A (hg19) ; chr10:g.49461480T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461480T>A , CM000672.2:g.49461480T>A	GRCh38
NC_000010.10:g.50669526T>A , CM000672.1:g.50669526T>A	GRCh37
NC_000010.9:g.50339532T>A	NCBI36
NG_009442.1:g.82622A>T , LRG_465:g.82622A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3855A>T MANE Select	ENSP00000348089.5:p.Glu1285Asp
ENST00000679552.1:n.926A>T
ENST00000679871.1:n.1001A>T
ENST00000679974.1:n.904A>T
ENST00000681632.1:n.5258A>T
ENST00000681659.1:c.3696A>T	ENSP00000505631.1:p.Glu1232Asp
ENST00000355832.9:c.3855A>T	ENSP00000348089.5:p.Glu1285Asp
ENST00000465653.1:n.177A>T
ENST00000623073.3:c.*2151A>T	ENSP00000485650.1:n.*2151A>T
ENST00000623115.3:c.1965A>T	ENSP00000485321.1:p.Glu655Asp
ENST00000624341.3:c.1687A>T
NM_000124.3:c.3855A>T	NP_000115.1:p.Glu1285Asp
XR_945953.1:n.243-10085T>A
NM_001346440.1:c.3855A>T	NP_001333369.1:p.Glu1285Asp
NM_000124.4:c.3855A>T MANE Select	NP_000115.1:p.Glu1285Asp
NM_001346440.2:c.3855A>T	NP_001333369.1:p.Glu1285Asp