Canonical Allele Identifier: CA376715366

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678629T>C (hg19) ; chr10:g.49470583T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470583T>C , CM000672.2:g.49470583T>C	GRCh38
NC_000010.10:g.50678629T>C , CM000672.1:g.50678629T>C	GRCh37
NC_000010.9:g.50348635T>C	NCBI36
NG_009442.1:g.73519A>G , LRG_465:g.73519A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3377A>G MANE Select	ENSP00000348089.5:p.Asn1126Ser
ENST00000679552.1:n.448A>G
ENST00000679871.1:n.523A>G
ENST00000679974.1:n.426A>G
ENST00000681632.1:n.4780A>G
ENST00000681659.1:c.3218A>G	ENSP00000505631.1:p.Asn1073Ser
ENST00000355832.9:c.3377A>G	ENSP00000348089.5:p.Asn1126Ser
ENST00000623073.3:c.*1673A>G	ENSP00000485650.1:n.*1673A>G
ENST00000623115.3:c.1487A>G	ENSP00000485321.1:p.Asn496Ser
ENST00000624341.3:c.1209A>G
NM_000124.3:c.3377A>G	NP_000115.1:p.Asn1126Ser
XR_945953.1:n.243-982T>C
NM_001346440.1:c.3377A>G	NP_001333369.1:p.Asn1126Ser
NM_000124.4:c.3377A>G MANE Select	NP_000115.1:p.Asn1126Ser
NM_001346440.2:c.3377A>G	NP_001333369.1:p.Asn1126Ser