Canonical Allele Identifier: CA376729209

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50708728C>T (hg19) ; chr10:g.49500682C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49500682C>T , CM000672.2:g.49500682C>T	GRCh38
NC_000010.10:g.50708728C>T , CM000672.1:g.50708728C>T	GRCh37
NC_000010.9:g.50378734C>T	NCBI36
NG_009442.1:g.43420G>A , LRG_465:g.43420G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1541G>A MANE Select	ENSP00000348089.5:p.Gly514Asp
ENST00000681632.1:n.1619G>A
ENST00000681659.1:c.1526+5202G>A	ENSP00000505631.1:n.1526+5202G>A
ENST00000355832.9:c.1541G>A	ENSP00000348089.5:p.Gly514Asp
ENST00000475116.1:n.131G>A
ENST00000623073.3:c.-59G>A	ENSP00000485650.1:n.-59G>A
ENST00000623115.3:c.-214G>A	ENSP00000485321.1:n.-214G>A
ENST00000623318.1:c.-59G>A	ENSP00000485423.1:n.-59G>A
ENST00000623788.1:n.540G>A
NM_000124.3:c.1541G>A	NP_000115.1:p.Gly514Asp
NM_001346440.1:c.1541G>A	NP_001333369.1:p.Gly514Asp
NM_000124.4:c.1541G>A MANE Select	NP_000115.1:p.Gly514Asp
NM_001346440.2:c.1541G>A	NP_001333369.1:p.Gly514Asp