Canonical Allele Identifier: CA376716517

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678822A>C (hg19) ; chr10:g.49470776A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470776A>C , CM000672.2:g.49470776A>C	GRCh38
NC_000010.10:g.50678822A>C , CM000672.1:g.50678822A>C	GRCh37
NC_000010.9:g.50348828A>C	NCBI36
NG_009442.1:g.73326T>G , LRG_465:g.73326T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3184T>G MANE Select	ENSP00000348089.5:p.Ser1062Ala
ENST00000679552.1:n.255T>G
ENST00000679871.1:n.330T>G
ENST00000679974.1:n.233T>G
ENST00000681632.1:n.4587T>G
ENST00000681659.1:c.3025T>G	ENSP00000505631.1:p.Ser1009Ala
ENST00000355832.9:c.3184T>G	ENSP00000348089.5:p.Ser1062Ala
ENST00000623073.3:c.*1480T>G	ENSP00000485650.1:n.*1480T>G
ENST00000623115.3:c.1294T>G	ENSP00000485321.1:p.Ser432Ala
ENST00000624341.3:c.1016T>G
NM_000124.3:c.3184T>G	NP_000115.1:p.Ser1062Ala
XR_945953.1:n.243-789A>C
NM_001346440.1:c.3184T>G	NP_001333369.1:p.Ser1062Ala
NM_000124.4:c.3184T>G MANE Select	NP_000115.1:p.Ser1062Ala
NM_001346440.2:c.3184T>G	NP_001333369.1:p.Ser1062Ala