Canonical Allele Identifier: CA376726567

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2445951
• ClinVar RCV Id: RCV003155870 ; RCV003679164
• MyVariant Identifiers: chr10:g.50701246G>A (hg19) ; chr10:g.49493200G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493200G>A , CM000672.2:g.49493200G>A	GRCh38
NC_000010.10:g.50701246G>A , CM000672.1:g.50701246G>A	GRCh37
NC_000010.9:g.50371252G>A	NCBI36
NG_009442.1:g.50902C>T , LRG_465:g.50902C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1738C>T MANE Select	ENSP00000348089.5:p.Gln580Ter
ENST00000681632.1:n.1816C>T
ENST00000681659.1:c.1579C>T	ENSP00000505631.1:p.Gln527Ter
ENST00000355832.9:c.1738C>T	ENSP00000348089.5:p.Gln580Ter
ENST00000475116.1:n.275+7338C>T
ENST00000623073.3:c.139C>T	ENSP00000485650.1:p.Gln47Ter
ENST00000623115.3:c.-70+7338C>T	ENSP00000485321.1:n.-70+7338C>T
ENST00000623318.1:c.139C>T	ENSP00000485423.1:p.Gln47Ter
NM_000124.3:c.1738C>T	NP_000115.1:p.Gln580Ter
NM_001346440.1:c.1738C>T	NP_001333369.1:p.Gln580Ter
NM_000124.4:c.1738C>T MANE Select	NP_000115.1:p.Gln580Ter
NM_001346440.2:c.1738C>T	NP_001333369.1:p.Gln580Ter