Canonical Allele Identifier: CA469789147

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50679114T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471068T>G , CM000672.2:g.49471068T>G	GRCh38
NC_000010.10:g.50679114T>G , CM000672.1:g.50679114T>G	GRCh37
NC_000010.9:g.50349120T>G	NCBI36
NG_009442.1:g.73034A>C , LRG_465:g.73034A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2977A>C MANE Select	ENSP00000348089.5:p.Arg993=
ENST00000679552.1:n.142-179A>C
ENST00000679871.1:n.123A>C
ENST00000679974.1:n.120-179A>C
ENST00000681632.1:n.4380A>C
ENST00000681659.1:c.2818A>C	ENSP00000505631.1:p.Arg940=
ENST00000355832.9:c.2977A>C	ENSP00000348089.5:p.Arg993=
ENST00000623073.3:c.*1273A>C	ENSP00000485650.1:n.*1273A>C
ENST00000623115.3:c.1087A>C	ENSP00000485321.1:p.Arg363=
ENST00000624341.3:c.809A>C
NM_000124.3:c.2977A>C	NP_000115.1:p.Arg993=
XR_945953.1:n.243-497T>G
NM_001346440.1:c.2977A>C	NP_001333369.1:p.Arg993=
NM_000124.4:c.2977A>C MANE Select	NP_000115.1:p.Arg993=
NM_001346440.2:c.2977A>C	NP_001333369.1:p.Arg993=