Canonical Allele Identifier: CA376708335

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50669469A>C (hg19) ; chr10:g.49461423A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461423A>C , CM000672.2:g.49461423A>C	GRCh38
NC_000010.10:g.50669469A>C , CM000672.1:g.50669469A>C	GRCh37
NC_000010.9:g.50339475A>C	NCBI36
NG_009442.1:g.82679T>G , LRG_465:g.82679T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3912T>G MANE Select	ENSP00000348089.5:p.Cys1304Trp
ENST00000679552.1:n.983T>G
ENST00000679871.1:n.1058T>G
ENST00000679974.1:n.961T>G
ENST00000681632.1:n.5315T>G
ENST00000681659.1:c.3753T>G	ENSP00000505631.1:p.Cys1251Trp
ENST00000355832.9:c.3912T>G	ENSP00000348089.5:p.Cys1304Trp
ENST00000465653.1:n.234T>G
ENST00000623073.3:c.*2208T>G	ENSP00000485650.1:n.*2208T>G
ENST00000623115.3:c.2022T>G	ENSP00000485321.1:p.Cys674Trp
ENST00000624341.3:c.1744T>G
NM_000124.3:c.3912T>G	NP_000115.1:p.Cys1304Trp
XR_945953.1:n.243-10142A>C
NM_001346440.1:c.3912T>G	NP_001333369.1:p.Cys1304Trp
NM_000124.4:c.3912T>G MANE Select	NP_000115.1:p.Cys1304Trp
NM_001346440.2:c.3912T>G	NP_001333369.1:p.Cys1304Trp