Canonical Allele Identifier: CA376728589

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49500554G>C , CM000672.2:g.49500554G>C	GRCh38
NC_000010.10:g.50708600G>C , CM000672.1:g.50708600G>C	GRCh37
NC_000010.9:g.50378606G>C	NCBI36
NG_009442.1:g.43548C>G , LRG_465:g.43548C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.1669C>G MANE Select	NP_000115.1:p.Arg557Gly
ENST00000355832.10:c.1669C>G MANE Select	ENSP00000348089.5:p.Arg557Gly
NM_000124.3:c.1669C>G	NP_000115.1:p.Arg557Gly
NM_001346440.1:c.1669C>G	NP_001333369.1:p.Arg557Gly
NM_001346440.2:c.1669C>G	NP_001333369.1:p.Arg557Gly
ENST00000355832.9:c.1669C>G	ENSP00000348089.5:p.Arg557Gly
ENST00000475116.1:n.259C>G
ENST00000623073.3:c.70C>G	ENSP00000485650.1:p.Arg24Gly
ENST00000623115.3:c.-86C>G	ENSP00000485321.1:n.-86C>G
ENST00000623318.1:c.70C>G	ENSP00000485423.1:p.Arg24Gly
ENST00000681632.1:n.1747C>G
ENST00000681659.1:c.1526+5330C>G	ENSP00000505631.1:n.1526+5330C>G