Canonical Allele Identifier: CA469790813

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2767079
• ClinVar RCV Id: RCV003573730
• MyVariant Identifiers: chr10:g.50732738T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524692T>C , CM000672.2:g.49524692T>C	GRCh38
NC_000010.10:g.50732738T>C , CM000672.1:g.50732738T>C	GRCh37
NC_000010.9:g.50402744T>C	NCBI36
NG_009442.1:g.19410A>G , LRG_465:g.19410A>G
NG_033155.1:g.4590A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.738A>G MANE Select	ENSP00000348089.5:p.Thr246=
ENST00000447839.7:c.738A>G MANE Plus Clinical	ENSP00000387966.2:p.Thr246=
ENST00000679596.1:c.*367A>G	ENSP00000504862.1:n.*367A>G
ENST00000679811.1:n.821A>G
ENST00000680107.1:c.652+3725A>G	ENSP00000505909.1:n.652+3725A>G
ENST00000680233.1:n.831A>G
ENST00000681632.1:n.816A>G
ENST00000681659.1:c.738A>G	ENSP00000505631.1:p.Thr246=
ENST00000355832.9:c.738A>G	ENSP00000348089.5:p.Thr246=
ENST00000447839.6:c.738A>G	ENSP00000387966.2:p.Thr246=
ENST00000515869.1:c.738A>G	ENSP00000423550.1:p.Thr246=
NM_000124.3:c.738A>G	NP_000115.1:p.Thr246=
NM_001277058.1:c.738A>G	NP_001263987.1:p.Thr246=
NM_001277059.1:c.738A>G	NP_001263988.1:p.Thr246=
NM_001346440.1:c.738A>G	NP_001333369.1:p.Thr246=
NM_000124.4:c.738A>G MANE Select	NP_000115.1:p.Thr246=
NM_001277058.2:c.738A>G MANE Plus Clinical	NP_001263987.1:p.Thr246=
NM_001277059.2:c.738A>G	NP_001263988.1:p.Thr246=
NM_001346440.2:c.738A>G	NP_001333369.1:p.Thr246=