Canonical Allele Identifier: CA376708020

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50668424A>T (hg19) ; chr10:g.49460378A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49460378A>T , CM000672.2:g.49460378A>T	GRCh38
NC_000010.10:g.50668424A>T , CM000672.1:g.50668424A>T	GRCh37
NC_000010.9:g.50338430A>T	NCBI36
NG_009442.1:g.83724T>A , LRG_465:g.83724T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.4057T>A MANE Select	ENSP00000348089.5:p.Cys1353Ser
ENST00000679552.1:n.1128T>A
ENST00000679871.1:n.1203T>A
ENST00000679974.1:n.1106T>A
ENST00000681632.1:n.5460T>A
ENST00000681659.1:c.3898T>A	ENSP00000505631.1:p.Cys1300Ser
ENST00000355832.9:c.4057T>A	ENSP00000348089.5:p.Cys1353Ser
ENST00000465653.1:n.379T>A
ENST00000623073.3:c.*2353T>A	ENSP00000485650.1:n.*2353T>A
ENST00000623115.3:c.2167T>A	ENSP00000485321.1:p.Cys723Ser
ENST00000624341.3:c.1889T>A
NM_000124.3:c.4057T>A	NP_000115.1:p.Cys1353Ser
XR_945953.1:n.243-11187A>T
NM_001346440.1:c.4057T>A	NP_001333369.1:p.Cys1353Ser
NM_000124.4:c.4057T>A MANE Select	NP_000115.1:p.Cys1353Ser
NM_001346440.2:c.4057T>A	NP_001333369.1:p.Cys1353Ser