Canonical Allele Identifier: CA376708475

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50669530G>T (hg19) ; chr10:g.49461484G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461484G>T , CM000672.2:g.49461484G>T	GRCh38
NC_000010.10:g.50669530G>T , CM000672.1:g.50669530G>T	GRCh37
NC_000010.9:g.50339536G>T	NCBI36
NG_009442.1:g.82618C>A , LRG_465:g.82618C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3851C>A MANE Select	ENSP00000348089.5:p.Ala1284Glu
ENST00000679552.1:n.922C>A
ENST00000679871.1:n.997C>A
ENST00000679974.1:n.900C>A
ENST00000681632.1:n.5254C>A
ENST00000681659.1:c.3692C>A	ENSP00000505631.1:p.Ala1231Glu
ENST00000355832.9:c.3851C>A	ENSP00000348089.5:p.Ala1284Glu
ENST00000465653.1:n.173C>A
ENST00000623073.3:c.*2147C>A	ENSP00000485650.1:n.*2147C>A
ENST00000623115.3:c.1961C>A	ENSP00000485321.1:p.Ala654Glu
ENST00000624341.3:c.1683C>A
NM_000124.3:c.3851C>A	NP_000115.1:p.Ala1284Glu
XR_945953.1:n.243-10081G>T
NM_001346440.1:c.3851C>A	NP_001333369.1:p.Ala1284Glu
NM_000124.4:c.3851C>A MANE Select	NP_000115.1:p.Ala1284Glu
NM_001346440.2:c.3851C>A	NP_001333369.1:p.Ala1284Glu