Canonical Allele Identifier: CA469788674

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678409A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470363A>G , CM000672.2:g.49470363A>G	GRCh38
NC_000010.10:g.50678409A>G , CM000672.1:g.50678409A>G	GRCh37
NC_000010.9:g.50348415A>G	NCBI36
NG_009442.1:g.73739T>C , LRG_465:g.73739T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3597T>C MANE Select	ENSP00000348089.5:p.His1199=
ENST00000679552.1:n.668T>C
ENST00000679871.1:n.743T>C
ENST00000679974.1:n.646T>C
ENST00000681632.1:n.5000T>C
ENST00000681659.1:c.3438T>C	ENSP00000505631.1:p.His1146=
ENST00000355832.9:c.3597T>C	ENSP00000348089.5:p.His1199=
ENST00000623073.3:c.*1893T>C	ENSP00000485650.1:n.*1893T>C
ENST00000623115.3:c.1707T>C	ENSP00000485321.1:p.His569=
ENST00000624341.3:c.1429T>C
NM_000124.3:c.3597T>C	NP_000115.1:p.His1199=
XR_945953.1:n.243-1202A>G
NM_001346440.1:c.3597T>C	NP_001333369.1:p.His1199=
NM_000124.4:c.3597T>C MANE Select	NP_000115.1:p.His1199=
NM_001346440.2:c.3597T>C	NP_001333369.1:p.His1199=