Canonical Allele Identifier: CA376708336

Gene: ERCC6

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3912T>A MANE Select	ENSP00000348089.5:p.Cys1304Ter
ENST00000679552.1:n.983T>A
ENST00000679871.1:n.1058T>A
ENST00000679974.1:n.961T>A
ENST00000681632.1:n.5315T>A
ENST00000681659.1:c.3753T>A	ENSP00000505631.1:p.Cys1251Ter
ENST00000355832.9:c.3912T>A	ENSP00000348089.5:p.Cys1304Ter
ENST00000465653.1:n.234T>A
ENST00000623073.3:c.*2208T>A	ENSP00000485650.1:n.*2208T>A
ENST00000623115.3:c.2022T>A	ENSP00000485321.1:p.Cys674Ter
ENST00000624341.3:c.1744T>A
NM_000124.3:c.3912T>A	NP_000115.1:p.Cys1304Ter
XR_945953.1:n.243-10142A>T
NM_001346440.1:c.3912T>A	NP_001333369.1:p.Cys1304Ter
NM_000124.4:c.3912T>A MANE Select	NP_000115.1:p.Cys1304Ter
NM_001346440.2:c.3912T>A	NP_001333369.1:p.Cys1304Ter