Canonical Allele Identifier: CA376726562

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50701244C>G (hg19) ; chr10:g.49493198C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493198C>G , CM000672.2:g.49493198C>G	GRCh38
NC_000010.10:g.50701244C>G , CM000672.1:g.50701244C>G	GRCh37
NC_000010.9:g.50371250C>G	NCBI36
NG_009442.1:g.50904G>C , LRG_465:g.50904G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1740G>C MANE Select	ENSP00000348089.5:p.Gln580His
ENST00000681632.1:n.1818G>C
ENST00000681659.1:c.1581G>C	ENSP00000505631.1:p.Gln527His
ENST00000355832.9:c.1740G>C	ENSP00000348089.5:p.Gln580His
ENST00000475116.1:n.275+7340G>C
ENST00000623073.3:c.141G>C	ENSP00000485650.1:p.Gln47His
ENST00000623115.3:c.-70+7340G>C	ENSP00000485321.1:n.-70+7340G>C
ENST00000623318.1:c.141G>C	ENSP00000485423.1:p.Gln47His
NM_000124.3:c.1740G>C	NP_000115.1:p.Gln580His
NM_001346440.1:c.1740G>C	NP_001333369.1:p.Gln580His
NM_000124.4:c.1740G>C MANE Select	NP_000115.1:p.Gln580His
NM_001346440.2:c.1740G>C	NP_001333369.1:p.Gln580His