Canonical Allele Identifier: CA376708031

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50668428C>G (hg19) ; chr10:g.49460382C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49460382C>G , CM000672.2:g.49460382C>G	GRCh38
NC_000010.10:g.50668428C>G , CM000672.1:g.50668428C>G	GRCh37
NC_000010.9:g.50338434C>G	NCBI36
NG_009442.1:g.83720G>C , LRG_465:g.83720G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.4053G>C MANE Select	ENSP00000348089.5:p.Glu1351Asp
ENST00000679552.1:n.1124G>C
ENST00000679871.1:n.1199G>C
ENST00000679974.1:n.1102G>C
ENST00000681632.1:n.5456G>C
ENST00000681659.1:c.3894G>C	ENSP00000505631.1:p.Glu1298Asp
ENST00000355832.9:c.4053G>C	ENSP00000348089.5:p.Glu1351Asp
ENST00000465653.1:n.375G>C
ENST00000623073.3:c.*2349G>C	ENSP00000485650.1:n.*2349G>C
ENST00000623115.3:c.2163G>C	ENSP00000485321.1:p.Glu721Asp
ENST00000624341.3:c.1885G>C
NM_000124.3:c.4053G>C	NP_000115.1:p.Glu1351Asp
XR_945953.1:n.243-11183C>G
NM_001346440.1:c.4053G>C	NP_001333369.1:p.Glu1351Asp
NM_000124.4:c.4053G>C MANE Select	NP_000115.1:p.Glu1351Asp
NM_001346440.2:c.4053G>C	NP_001333369.1:p.Glu1351Asp