Canonical Allele Identifier: CA469789118

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2823771
• ClinVar RCV Id: RCV003706816
• MyVariant Identifiers: chr10:g.50678787A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470741A>T , CM000672.2:g.49470741A>T	GRCh38
NC_000010.10:g.50678787A>T , CM000672.1:g.50678787A>T	GRCh37
NC_000010.9:g.50348793A>T	NCBI36
NG_009442.1:g.73361T>A , LRG_465:g.73361T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3219T>A MANE Select	ENSP00000348089.5:p.Ser1073=
ENST00000679552.1:n.290T>A
ENST00000679871.1:n.365T>A
ENST00000679974.1:n.268T>A
ENST00000681632.1:n.4622T>A
ENST00000681659.1:c.3060T>A	ENSP00000505631.1:p.Ser1020=
ENST00000355832.9:c.3219T>A	ENSP00000348089.5:p.Ser1073=
ENST00000623073.3:c.*1515T>A	ENSP00000485650.1:n.*1515T>A
ENST00000623115.3:c.1329T>A	ENSP00000485321.1:p.Ser443=
ENST00000624341.3:c.1051T>A
NM_000124.3:c.3219T>A	NP_000115.1:p.Ser1073=
XR_945953.1:n.243-824A>T
NM_001346440.1:c.3219T>A	NP_001333369.1:p.Ser1073=
NM_000124.4:c.3219T>A MANE Select	NP_000115.1:p.Ser1073=
NM_001346440.2:c.3219T>A	NP_001333369.1:p.Ser1073=