Canonical Allele Identifier: CA376726399

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 984138
• ClinVar RCV Id: RCV001264146
• dbSNP Id: rs961060711
• MyVariant Identifiers: chr10:g.50701168T>A (hg19) ; chr10:g.49493122T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493122T>A , CM000672.2:g.49493122T>A	GRCh38
NC_000010.10:g.50701168T>A , CM000672.1:g.50701168T>A	GRCh37
NC_000010.9:g.50371174T>A	NCBI36
NG_009442.1:g.50980A>T , LRG_465:g.50980A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1816A>T MANE Select	ENSP00000348089.5:p.Lys606Ter
ENST00000681632.1:n.1894A>T
ENST00000681659.1:c.1657A>T	ENSP00000505631.1:p.Lys553Ter
ENST00000355832.9:c.1816A>T	ENSP00000348089.5:p.Lys606Ter
ENST00000475116.1:n.275+7416A>T
ENST00000623073.3:c.217A>T	ENSP00000485650.1:p.Lys73Ter
ENST00000623115.3:c.-70+7416A>T	ENSP00000485321.1:n.-70+7416A>T
ENST00000623318.1:c.217A>T	ENSP00000485423.1:p.Lys73Ter
NM_000124.3:c.1816A>T	NP_000115.1:p.Lys606Ter
NM_001346440.1:c.1816A>T	NP_001333369.1:p.Lys606Ter
NM_000124.4:c.1816A>T MANE Select	NP_000115.1:p.Lys606Ter
NM_001346440.2:c.1816A>T	NP_001333369.1:p.Lys606Ter