Canonical Allele Identifier: CA469789169

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678862A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470816A>G , CM000672.2:g.49470816A>G	GRCh38
NC_000010.10:g.50678862A>G , CM000672.1:g.50678862A>G	GRCh37
NC_000010.9:g.50348868A>G	NCBI36
NG_009442.1:g.73286T>C , LRG_465:g.73286T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3144T>C MANE Select	ENSP00000348089.5:p.His1048=
ENST00000679552.1:n.215T>C
ENST00000679871.1:n.290T>C
ENST00000679974.1:n.193T>C
ENST00000681632.1:n.4547T>C
ENST00000681659.1:c.2985T>C	ENSP00000505631.1:p.His995=
ENST00000355832.9:c.3144T>C	ENSP00000348089.5:p.His1048=
ENST00000623073.3:c.*1440T>C	ENSP00000485650.1:n.*1440T>C
ENST00000623115.3:c.1254T>C	ENSP00000485321.1:p.His418=
ENST00000624341.3:c.976T>C
NM_000124.3:c.3144T>C	NP_000115.1:p.His1048=
XR_945953.1:n.243-749A>G
NM_001346440.1:c.3144T>C	NP_001333369.1:p.His1048=
NM_000124.4:c.3144T>C MANE Select	NP_000115.1:p.His1048=
NM_001346440.2:c.3144T>C	NP_001333369.1:p.His1048=