Canonical Allele Identifier: CA376708161

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50668488A>T (hg19) ; chr10:g.49460442A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49460442A>T , CM000672.2:g.49460442A>T	GRCh38
NC_000010.10:g.50668488A>T , CM000672.1:g.50668488A>T	GRCh37
NC_000010.9:g.50338494A>T	NCBI36
NG_009442.1:g.83660T>A , LRG_465:g.83660T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3993T>A MANE Select	ENSP00000348089.5:p.Phe1331Leu
ENST00000679552.1:n.1064T>A
ENST00000679871.1:n.1139T>A
ENST00000679974.1:n.1042T>A
ENST00000681632.1:n.5396T>A
ENST00000681659.1:c.3834T>A	ENSP00000505631.1:p.Phe1278Leu
ENST00000355832.9:c.3993T>A	ENSP00000348089.5:p.Phe1331Leu
ENST00000465653.1:n.315T>A
ENST00000623073.3:c.*2289T>A	ENSP00000485650.1:n.*2289T>A
ENST00000623115.3:c.2103T>A	ENSP00000485321.1:p.Phe701Leu
ENST00000624341.3:c.1825T>A
NM_000124.3:c.3993T>A	NP_000115.1:p.Phe1331Leu
XR_945953.1:n.243-11123A>T
NM_001346440.1:c.3993T>A	NP_001333369.1:p.Phe1331Leu
NM_000124.4:c.3993T>A MANE Select	NP_000115.1:p.Phe1331Leu
NM_001346440.2:c.3993T>A	NP_001333369.1:p.Phe1331Leu