Canonical Allele Identifier: CA376713204

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678374T>G (hg19) ; chr10:g.49470328T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470328T>G , CM000672.2:g.49470328T>G	GRCh38
NC_000010.10:g.50678374T>G , CM000672.1:g.50678374T>G	GRCh37
NC_000010.9:g.50348380T>G	NCBI36
NG_009442.1:g.73774A>C , LRG_465:g.73774A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3632A>C MANE Select	ENSP00000348089.5:p.His1211Pro
ENST00000679552.1:n.703A>C
ENST00000679871.1:n.778A>C
ENST00000679974.1:n.681A>C
ENST00000681632.1:n.5035A>C
ENST00000681659.1:c.3473A>C	ENSP00000505631.1:p.His1158Pro
ENST00000355832.9:c.3632A>C	ENSP00000348089.5:p.His1211Pro
ENST00000623073.3:c.*1928A>C	ENSP00000485650.1:n.*1928A>C
ENST00000623115.3:c.1742A>C	ENSP00000485321.1:p.His581Pro
ENST00000624341.3:c.1464A>C
NM_000124.3:c.3632A>C	NP_000115.1:p.His1211Pro
XR_945953.1:n.243-1237T>G
NM_001346440.1:c.3632A>C	NP_001333369.1:p.His1211Pro
NM_000124.4:c.3632A>C MANE Select	NP_000115.1:p.His1211Pro
NM_001346440.2:c.3632A>C	NP_001333369.1:p.His1211Pro